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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: 15-78932405-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78932405&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78932405,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004390.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala",
"transcript": "NM_004390.5",
"protein_id": "NP_004381.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 335,
"cds_start": 459,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220166.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004390.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala",
"transcript": "ENST00000220166.10",
"protein_id": "ENSP00000220166.6",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 335,
"cds_start": 459,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004390.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220166.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala",
"transcript": "ENST00000615999.5",
"protein_id": "ENSP00000483303.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 358,
"cds_start": 459,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615999.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.507G>A",
"hgvs_p": null,
"transcript": "ENST00000527715.6",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527715.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.*408G>A",
"hgvs_p": null,
"transcript": "ENST00000533777.5",
"protein_id": "ENSP00000431879.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533777.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "n.*408G>A",
"hgvs_p": null,
"transcript": "ENST00000533777.5",
"protein_id": "ENSP00000431879.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533777.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "ENST00000906226.1",
"protein_id": "ENSP00000576285.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 449,
"cds_start": 622,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906226.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "ENST00000906228.1",
"protein_id": "ENSP00000576287.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 447,
"cds_start": 622,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906228.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "ENST00000677534.1",
"protein_id": "ENSP00000503261.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 446,
"cds_start": 622,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677534.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Asp180Asn",
"transcript": "ENST00000906227.1",
"protein_id": "ENSP00000576286.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 419,
"cds_start": 538,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906227.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Asp180Asn",
"transcript": "ENST00000969897.1",
"protein_id": "ENSP00000639956.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 418,
"cds_start": 538,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969897.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala",
"transcript": "ENST00000676880.1",
"protein_id": "ENSP00000504341.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 367,
"cds_start": 459,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676880.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.501G>A",
"hgvs_p": "p.Ala167Ala",
"transcript": "ENST00000969896.1",
"protein_id": "ENSP00000639955.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 349,
"cds_start": 501,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969896.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala",
"transcript": "ENST00000906229.1",
"protein_id": "ENSP00000576288.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 346,
"cds_start": 459,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906229.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala",
"transcript": "ENST00000677936.1",
"protein_id": "ENSP00000502988.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 311,
"cds_start": 459,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677936.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.345G>A",
"hgvs_p": "p.Ala115Ala",
"transcript": "NM_001411095.1",
"protein_id": "NP_001398024.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 297,
"cds_start": 345,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411095.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.345G>A",
"hgvs_p": "p.Ala115Ala",
"transcript": "ENST00000528741.6",
"protein_id": "ENSP00000435329.2",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 297,
"cds_start": 345,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528741.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.345G>A",
"hgvs_p": "p.Ala115Ala",
"transcript": "ENST00000677316.1",
"protein_id": "ENSP00000504051.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 297,
"cds_start": 345,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677316.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala",
"transcript": "ENST00000677810.1",
"protein_id": "ENSP00000503585.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 293,
"cds_start": 459,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677810.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.231G>A",
"hgvs_p": "p.Ala77Ala",
"transcript": "ENST00000677011.1",
"protein_id": "ENSP00000504778.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 259,
"cds_start": 231,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677011.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.231G>A",
"hgvs_p": "p.Ala77Ala",
"transcript": "ENST00000678644.1",
"protein_id": "ENSP00000503269.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 259,
"cds_start": 231,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678644.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSH",
"gene_hgnc_id": 2535,
"hgvs_c": "c.207G>A",
"hgvs_p": "p.Ala69Ala",
"transcript": "ENST00000677207.1",
"protein_id": "ENSP00000504828.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 251,
"cds_start": 207,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677207.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ala153Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}