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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: 19-13104975-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13104975&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13104975,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017722.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Pro647Arg",
"transcript": "NM_001136035.4",
"protein_id": "NP_001129507.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 659,
"cds_start": 1940,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "ENST00000357720.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136035.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Pro647Arg",
"transcript": "ENST00000357720.9",
"protein_id": "ENSP00000350352.4",
"transcript_support_level": 2,
"aa_start": 647,
"aa_end": null,
"aa_length": 659,
"cds_start": 1940,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "NM_001136035.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357720.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Pro647Arg",
"transcript": "ENST00000437766.5",
"protein_id": "ENSP00000416149.1",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 659,
"cds_start": 1940,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437766.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1853C>G",
"hgvs_p": "p.Pro618Arg",
"transcript": "ENST00000221504.12",
"protein_id": "ENSP00000221504.7",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 630,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221504.12"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Pro647Arg",
"transcript": "NM_017722.5",
"protein_id": "NP_060192.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 659,
"cds_start": 1940,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017722.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Pro647Arg",
"transcript": "ENST00000592062.5",
"protein_id": "ENSP00000466967.1",
"transcript_support_level": 5,
"aa_start": 647,
"aa_end": null,
"aa_length": 659,
"cds_start": 1940,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592062.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1937C>G",
"hgvs_p": "p.Pro646Arg",
"transcript": "ENST00000913623.1",
"protein_id": "ENSP00000583682.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 658,
"cds_start": 1937,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913623.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1937C>G",
"hgvs_p": "p.Pro646Arg",
"transcript": "ENST00000913624.1",
"protein_id": "ENSP00000583683.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 658,
"cds_start": 1937,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913624.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1916C>G",
"hgvs_p": "p.Pro639Arg",
"transcript": "ENST00000907296.1",
"protein_id": "ENSP00000577355.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 651,
"cds_start": 1916,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907296.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1874C>G",
"hgvs_p": "p.Pro625Arg",
"transcript": "ENST00000907297.1",
"protein_id": "ENSP00000577356.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 637,
"cds_start": 1874,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907297.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1853C>G",
"hgvs_p": "p.Pro618Arg",
"transcript": "NM_001142554.3",
"protein_id": "NP_001136026.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 630,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142554.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1853C>G",
"hgvs_p": "p.Pro618Arg",
"transcript": "NM_001351760.2",
"protein_id": "NP_001338689.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 630,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351760.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1853C>G",
"hgvs_p": "p.Pro618Arg",
"transcript": "ENST00000907294.1",
"protein_id": "ENSP00000577353.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 630,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907294.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1850C>G",
"hgvs_p": "p.Pro617Arg",
"transcript": "ENST00000913628.1",
"protein_id": "ENSP00000583687.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 629,
"cds_start": 1850,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913628.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1832C>G",
"hgvs_p": "p.Pro611Arg",
"transcript": "NM_001351761.2",
"protein_id": "NP_001338690.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 623,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351761.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1829C>G",
"hgvs_p": "p.Pro610Arg",
"transcript": "ENST00000907295.1",
"protein_id": "ENSP00000577354.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 622,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907295.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1814C>G",
"hgvs_p": "p.Pro605Arg",
"transcript": "ENST00000913627.1",
"protein_id": "ENSP00000583686.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 617,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913627.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1805C>G",
"hgvs_p": "p.Pro602Arg",
"transcript": "ENST00000907298.1",
"protein_id": "ENSP00000577357.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 614,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907298.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1778C>G",
"hgvs_p": "p.Pro593Arg",
"transcript": "ENST00000913622.1",
"protein_id": "ENSP00000583681.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 605,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913622.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1718C>G",
"hgvs_p": "p.Pro573Arg",
"transcript": "ENST00000960268.1",
"protein_id": "ENSP00000630327.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 585,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960268.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1646C>G",
"hgvs_p": "p.Pro549Arg",
"transcript": "ENST00000913625.1",
"protein_id": "ENSP00000583684.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 561,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913625.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1613C>G",
"hgvs_p": "p.Pro538Arg",
"transcript": "ENST00000913626.1",
"protein_id": "ENSP00000583685.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 550,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1674,
"cdna_end": null,
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"mane_select": null,
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 0,
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],
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}