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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: 3-58382630-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58382630&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58382630,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001349492.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_017771.5",
"protein_id": "NP_060241.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 578,
"cds_start": 318,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": "ENST00000356151.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017771.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000356151.7",
"protein_id": "ENSP00000348472.2",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 578,
"cds_start": 318,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": "NM_017771.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356151.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000302779.9",
"protein_id": "ENSP00000305045.6",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 557,
"cds_start": 318,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302779.9"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000383716.7",
"protein_id": "ENSP00000373222.4",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 515,
"cds_start": 318,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383716.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000484288.5",
"protein_id": "ENSP00000417915.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 515,
"cds_start": 318,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484288.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "n.318T>C",
"hgvs_p": null,
"transcript": "ENST00000477308.5",
"protein_id": "ENSP00000420403.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477308.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "n.103-7952T>C",
"hgvs_p": null,
"transcript": "ENST00000468776.5",
"protein_id": "ENSP00000417167.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468776.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_001349492.2",
"protein_id": "NP_001336421.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 581,
"cds_start": 318,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349492.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "NM_001349493.2",
"protein_id": "NP_001336422.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 580,
"cds_start": 318,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349493.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000877066.1",
"protein_id": "ENSP00000547125.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 577,
"cds_start": 318,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877066.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000944947.1",
"protein_id": "ENSP00000615006.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 577,
"cds_start": 318,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944947.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.318T>C",
"hgvs_p": "p.Asn106Asn",
"transcript": "ENST00000877068.1",
"protein_id": "ENSP00000547127.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 574,
"cds_start": 318,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877068.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Asn97Asn",
"transcript": "ENST00000877073.1",
"protein_id": "ENSP00000547132.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 569,
"cds_start": 291,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877073.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Asn89Asn",
"transcript": "NM_001289095.2",
"protein_id": "NP_001276024.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 563,
"cds_start": 267,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289095.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000479241.5",
"protein_id": "ENSP00000419049.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 563,
"cds_start": 267,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479241.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.270T>C",
"hgvs_p": "p.Asn90Asn",
"transcript": "NM_001349494.2",
"protein_id": "NP_001336423.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 562,
"cds_start": 270,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349494.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.270T>C",
"hgvs_p": "p.Asn90Asn",
"transcript": "ENST00000877067.1",
"protein_id": "ENSP00000547126.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 562,
"cds_start": 270,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877067.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.270T>C",
"hgvs_p": "p.Asn90Asn",
"transcript": "NM_001349495.2",
"protein_id": "NP_001336424.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 561,
"cds_start": 270,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349495.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Asn89Asn",
"transcript": "NM_001349496.2",
"protein_id": "NP_001336425.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 561,
"cds_start": 267,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349496.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000877069.1",
"protein_id": "ENSP00000547128.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 561,
"cds_start": 267,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877069.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.270T>C",
"hgvs_p": "p.Asn90Asn",
"transcript": "ENST00000877072.1",
"protein_id": "ENSP00000547131.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 561,
"cds_start": 270,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877072.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXK",
"gene_hgnc_id": 23326,
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Asn89Asn",
"transcript": "NM_001349497.2",
"protein_id": "NP_001336426.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 560,
"cds_start": 267,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2947,
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{
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"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}