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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: 8-67193564-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67193564&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 67193564,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000678616.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3431G>C",
"hgvs_p": "p.Arg1144Pro",
"transcript": "NM_001382391.1",
"protein_id": "NP_001369320.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3431,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "ENST00000678616.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3431G>C",
"hgvs_p": "p.Arg1144Pro",
"transcript": "ENST00000678616.1",
"protein_id": "ENSP00000504733.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3431,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "NM_001382391.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3497G>C",
"hgvs_p": "p.Arg1166Pro",
"transcript": "ENST00000262210.11",
"protein_id": "ENSP00000262210.6",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2381G>C",
"hgvs_p": "p.Arg794Pro",
"transcript": "ENST00000519668.1",
"protein_id": "ENSP00000430092.1",
"transcript_support_level": 1,
"aa_start": 794,
"aa_end": null,
"aa_length": 876,
"cds_start": 2381,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "n.1321-1818G>C",
"hgvs_p": null,
"transcript": "ENST00000521168.5",
"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": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3539G>C",
"hgvs_p": "p.Arg1180Pro",
"transcript": "ENST00000676605.1",
"protein_id": "ENSP00000503605.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3539G>C",
"hgvs_p": "p.Arg1180Pro",
"transcript": "ENST00000678542.1",
"protein_id": "ENSP00000503878.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3521G>C",
"hgvs_p": "p.Arg1174Pro",
"transcript": "ENST00000674993.1",
"protein_id": "ENSP00000502454.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3521,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3497G>C",
"hgvs_p": "p.Arg1166Pro",
"transcript": "NM_001364869.1",
"protein_id": "NP_001351798.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3504,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3416G>C",
"hgvs_p": "p.Arg1139Pro",
"transcript": "NM_024790.7",
"protein_id": "NP_079066.5",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3416,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3423,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3416G>C",
"hgvs_p": "p.Arg1139Pro",
"transcript": "ENST00000676317.1",
"protein_id": "ENSP00000502047.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3416,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3410G>C",
"hgvs_p": "p.Arg1137Pro",
"transcript": "ENST00000676847.1",
"protein_id": "ENSP00000503336.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3410,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3398G>C",
"hgvs_p": "p.Arg1133Pro",
"transcript": "ENST00000677592.1",
"protein_id": "ENSP00000504516.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3429,
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"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3389G>C",
"hgvs_p": "p.Arg1130Pro",
"transcript": "ENST00000676113.1",
"protein_id": "ENSP00000501645.1",
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"cds_start": 3389,
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"cdna_start": 3494,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3350G>C",
"hgvs_p": "p.Arg1117Pro",
"transcript": "NM_001363131.2",
"protein_id": "NP_001350060.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3507,
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"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3350G>C",
"hgvs_p": "p.Arg1117Pro",
"transcript": "ENST00000675955.1",
"protein_id": "ENSP00000501676.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3317G>C",
"hgvs_p": "p.Arg1106Pro",
"transcript": "NM_001364870.1",
"protein_id": "NP_001351799.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3317,
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"cdna_start": 3324,
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"cdna_length": 4595,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3317G>C",
"hgvs_p": "p.Arg1106Pro",
"transcript": "ENST00000676882.1",
"protein_id": "ENSP00000504342.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1188,
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"cdna_start": 3338,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 28,
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"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3308G>C",
"hgvs_p": "p.Arg1103Pro",
"transcript": "ENST00000678645.1",
"protein_id": "ENSP00000504031.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3263G>C",
"hgvs_p": "p.Arg1088Pro",
"transcript": "NM_001438330.1",
"protein_id": "NP_001425259.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
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"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3236G>C",
"hgvs_p": "p.Arg1079Pro",
"transcript": "NM_001363132.2",
"protein_id": "NP_001350061.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3236,
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"cdna_start": 3393,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3236G>C",
"hgvs_p": "p.Arg1079Pro",
"transcript": "ENST00000675869.1",
"protein_id": "ENSP00000502747.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3236,
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"cds_length": 3486,
"cdna_start": 3439,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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}
],
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}