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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: 5-122450708-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=122450708&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 122450708,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000261368.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.1861C>G",
"hgvs_p": "p.Arg621Gly",
"transcript": "NM_005460.4",
"protein_id": "NP_005451.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 919,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": "ENST00000261368.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.1861C>G",
"hgvs_p": "p.Arg621Gly",
"transcript": "ENST00000261368.13",
"protein_id": "ENSP00000261368.8",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 919,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": "NM_005460.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "ENST00000261367.11",
"protein_id": "ENSP00000261367.7",
"transcript_support_level": 1,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 3430,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.*608C>G",
"hgvs_p": null,
"transcript": "ENST00000508017.5",
"protein_id": "ENSP00000424338.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.*608C>G",
"hgvs_p": null,
"transcript": "ENST00000512385.5",
"protein_id": "ENSP00000426280.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.*608C>G",
"hgvs_p": null,
"transcript": "ENST00000508017.5",
"protein_id": "ENSP00000424338.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.*608C>G",
"hgvs_p": null,
"transcript": "ENST00000512385.5",
"protein_id": "ENSP00000426280.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MGC32805",
"gene_hgnc_id": 28478,
"hgvs_c": "n.464-42G>C",
"hgvs_p": null,
"transcript": "ENST00000510972.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "NM_001308100.2",
"protein_id": "NP_001295029.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.1681C>G",
"hgvs_p": "p.Arg561Gly",
"transcript": "NM_001308105.1",
"protein_id": "NP_001295034.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 859,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.1681C>G",
"hgvs_p": "p.Arg561Gly",
"transcript": "ENST00000509154.6",
"protein_id": "ENSP00000422106.2",
"transcript_support_level": 5,
"aa_start": 561,
"aa_end": null,
"aa_length": 857,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Arg315Gly",
"transcript": "NM_001308108.1",
"protein_id": "NP_001295037.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 613,
"cds_start": 943,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.763C>G",
"hgvs_p": "p.Arg255Gly",
"transcript": "NM_001242935.3",
"protein_id": "NP_001229864.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 603,
"cds_start": 763,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.763C>G",
"hgvs_p": "p.Arg255Gly",
"transcript": "NM_001308107.2",
"protein_id": "NP_001295036.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 553,
"cds_start": 763,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.757C>G",
"hgvs_p": "p.Arg253Gly",
"transcript": "NM_001308106.1",
"protein_id": "NP_001295035.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 551,
"cds_start": 757,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "NM_001308109.2",
"protein_id": "NP_001295038.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 515,
"cds_start": 649,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "XM_011543737.3",
"protein_id": "XP_011542039.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "XM_011543738.3",
"protein_id": "XP_011542040.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "XM_011543739.2",
"protein_id": "XP_011542041.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "XM_011543741.3",
"protein_id": "XP_011542043.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "XM_011543743.3",
"protein_id": "XP_011542045.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "XM_047417911.1",
"protein_id": "XP_047273867.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2002,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "XM_017010079.2",
"protein_id": "XP_016865568.1",
"transcript_support_level": null,
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{
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{
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}