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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: 6-123279062-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123279062&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 123279062,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006073.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "NM_006073.4",
"protein_id": "NP_006064.2",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 729,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334268.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006073.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "ENST00000334268.9",
"protein_id": "ENSP00000333984.5",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 729,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006073.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334268.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1534C>A",
"hgvs_p": "p.Pro512Thr",
"transcript": "ENST00000962661.1",
"protein_id": "ENSP00000632720.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 730,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962661.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "ENST00000962654.1",
"protein_id": "ENSP00000632713.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 729,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962654.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "ENST00000962655.1",
"protein_id": "ENSP00000632714.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 729,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962655.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1534C>A",
"hgvs_p": "p.Pro512Thr",
"transcript": "ENST00000962660.1",
"protein_id": "ENSP00000632719.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 729,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962660.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1534C>A",
"hgvs_p": "p.Pro512Thr",
"transcript": "ENST00000962662.1",
"protein_id": "ENSP00000632721.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 729,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962662.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Pro510Thr",
"transcript": "ENST00000962653.1",
"protein_id": "ENSP00000632712.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 728,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962653.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Pro510Thr",
"transcript": "ENST00000962656.1",
"protein_id": "ENSP00000632715.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 728,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962656.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Pro510Thr",
"transcript": "ENST00000962663.1",
"protein_id": "ENSP00000632722.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 728,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962663.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "ENST00000962664.1",
"protein_id": "ENSP00000632723.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 728,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962664.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1525C>A",
"hgvs_p": "p.Pro509Thr",
"transcript": "ENST00000962659.1",
"protein_id": "ENSP00000632718.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 727,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962659.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Pro510Thr",
"transcript": "ENST00000962682.1",
"protein_id": "ENSP00000632741.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 727,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962682.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "ENST00000962678.1",
"protein_id": "ENSP00000632737.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 726,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962678.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Pro510Thr",
"transcript": "ENST00000962674.1",
"protein_id": "ENSP00000632733.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 725,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962674.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Pro501Thr",
"transcript": "ENST00000962657.1",
"protein_id": "ENSP00000632716.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 719,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962657.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Pro501Thr",
"transcript": "ENST00000962666.1",
"protein_id": "ENSP00000632725.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 719,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962666.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Pro501Thr",
"transcript": "ENST00000962671.1",
"protein_id": "ENSP00000632730.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 719,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962671.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1498C>A",
"hgvs_p": "p.Pro500Thr",
"transcript": "ENST00000962673.1",
"protein_id": "ENSP00000632732.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 718,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962673.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Pro501Thr",
"transcript": "ENST00000962676.1",
"protein_id": "ENSP00000632735.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 718,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962676.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "ENST00000962652.1",
"protein_id": "ENSP00000632711.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 717,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962652.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1531C>A",
"hgvs_p": "p.Pro511Thr",
"transcript": "ENST00000962670.1",
"protein_id": "ENSP00000632729.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 717,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2154,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"phenotype_combined": "Cardiovascular phenotype|not specified|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
"message": null
}