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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: 3-134603672-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134603672&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134603672,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_178554.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"hgvs_c": "c.1893A>G",
"hgvs_p": "p.Thr631Thr",
"transcript": "NM_178554.6",
"protein_id": "NP_848649.3",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 661,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 5704,
"mane_select": "ENST00000423778.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178554.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"hgvs_c": "c.1893A>G",
"hgvs_p": "p.Thr631Thr",
"transcript": "ENST00000423778.7",
"protein_id": "ENSP00000397598.2",
"transcript_support_level": 5,
"aa_start": 631,
"aa_end": null,
"aa_length": 661,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 5704,
"mane_select": "NM_178554.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423778.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"hgvs_c": "c.*775A>G",
"hgvs_p": null,
"transcript": "ENST00000503669.1",
"protein_id": "ENSP00000426777.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503669.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"hgvs_c": "c.1845A>G",
"hgvs_p": "p.Thr615Thr",
"transcript": "NM_001350859.2",
"protein_id": "NP_001337788.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 645,
"cds_start": 1845,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350859.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"hgvs_c": "c.1839A>G",
"hgvs_p": "p.Thr613Thr",
"transcript": "ENST00000864999.1",
"protein_id": "ENSP00000535058.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 643,
"cds_start": 1839,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864999.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"hgvs_c": "c.1830A>G",
"hgvs_p": "p.Thr610Thr",
"transcript": "NM_001366276.1",
"protein_id": "NP_001353205.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 640,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366276.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"hgvs_c": "c.1830A>G",
"hgvs_p": "p.Thr610Thr",
"transcript": "ENST00000508956.5",
"protein_id": "ENSP00000421297.1",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 640,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508956.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.351T>C",
"hgvs_p": null,
"transcript": "ENST00000830983.1",
"protein_id": null,
"transcript_support_level": null,
"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": 608,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830983.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.106+5688T>C",
"hgvs_p": null,
"transcript": "ENST00000467708.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467708.2"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.1874+5688T>C",
"hgvs_p": null,
"transcript": "ENST00000472904.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472904.6"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.1687-11512T>C",
"hgvs_p": null,
"transcript": "ENST00000683452.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000683452.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.348+5688T>C",
"hgvs_p": null,
"transcript": "ENST00000686482.3",
"protein_id": null,
"transcript_support_level": null,
"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": 989,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686482.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.273+5688T>C",
"hgvs_p": null,
"transcript": "ENST00000830980.1",
"protein_id": null,
"transcript_support_level": null,
"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": 879,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830980.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.326+5688T>C",
"hgvs_p": null,
"transcript": "ENST00000830981.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830981.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288700",
"gene_hgnc_id": null,
"hgvs_c": "n.284+5688T>C",
"hgvs_p": null,
"transcript": "ENST00000830982.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1070,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830982.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.1639+5688T>C",
"hgvs_p": null,
"transcript": "XR_002959589.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 9415,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002959589.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.1672+5688T>C",
"hgvs_p": null,
"transcript": "XR_007095729.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095729.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.1672+5688T>C",
"hgvs_p": null,
"transcript": "XR_007095730.1",
"protein_id": null,
"transcript_support_level": null,
"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": 9455,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095730.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.1672+5688T>C",
"hgvs_p": null,
"transcript": "XR_007095731.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095731.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.1777+5688T>C",
"hgvs_p": null,
"transcript": "XR_007095732.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9555,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095732.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.2176+5688T>C",
"hgvs_p": null,
"transcript": "XR_007095733.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095733.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.1848+5688T>C",
"hgvs_p": null,
"transcript": "XR_007095734.1",
"protein_id": null,
"transcript_support_level": null,
"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": 9624,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095734.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.1684+5688T>C",
"hgvs_p": null,
"transcript": "XR_007095735.1",
"protein_id": null,
"transcript_support_level": null,
"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": 9460,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095735.1"
}
],
"gene_symbol": "KY",
"gene_hgnc_id": 26576,
"dbsnp": "rs61745335",
"frequency_reference_population": 0.0076632695,
"hom_count_reference_population": 849,
"allele_count_reference_population": 12367,
"gnomad_exomes_af": 0.0043552,
"gnomad_genomes_af": 0.0394008,
"gnomad_exomes_ac": 6365,
"gnomad_genomes_ac": 6002,
"gnomad_exomes_homalt": 428,
"gnomad_genomes_homalt": 421,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.067,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_178554.6",
"gene_symbol": "KY",
"hgnc_id": 26576,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1893A>G",
"hgvs_p": "p.Thr631Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000830983.1",
"gene_symbol": "ENSG00000288700",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.351T>C",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_002959589.2",
"gene_symbol": "CEP63",
"hgnc_id": 25815,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1639+5688T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}