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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: 10-13600289-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13600289&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13600289,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003675.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_003675.4",
"protein_id": "NP_003666.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": "ENST00000378572.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "ENST00000378572.8",
"protein_id": "ENSP00000367835.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": "NM_003675.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Pro73Ser",
"transcript": "NM_001395875.1",
"protein_id": "NP_001382804.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 351,
"cds_start": 217,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "NM_001395876.1",
"protein_id": "NP_001382805.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 336,
"cds_start": 172,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001395877.1",
"protein_id": "NP_001382806.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 329,
"cds_start": 190,
"cds_end": null,
"cds_length": 990,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Pro49Ser",
"transcript": "NM_001395878.1",
"protein_id": "NP_001382807.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 327,
"cds_start": 145,
"cds_end": null,
"cds_length": 984,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001395879.1",
"protein_id": "NP_001382808.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 318,
"cds_start": 190,
"cds_end": null,
"cds_length": 957,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Pro73Ser",
"transcript": "NM_001395880.1",
"protein_id": "NP_001382809.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 304,
"cds_start": 217,
"cds_end": null,
"cds_length": 915,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001395881.1",
"protein_id": "NP_001382810.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 295,
"cds_start": 190,
"cds_end": null,
"cds_length": 888,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Pro49Ser",
"transcript": "NM_001395882.1",
"protein_id": "NP_001382811.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 289,
"cds_start": 145,
"cds_end": null,
"cds_length": 870,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "NM_001395883.1",
"protein_id": "NP_001382812.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 289,
"cds_start": 172,
"cds_end": null,
"cds_length": 870,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "NM_001395884.1",
"protein_id": "NP_001382813.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 271,
"cds_start": 190,
"cds_end": null,
"cds_length": 816,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Pro49Ser",
"transcript": "NM_001395887.1",
"protein_id": "NP_001382816.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 256,
"cds_start": 145,
"cds_end": null,
"cds_length": 771,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "ENST00000417658.5",
"protein_id": "ENSP00000392142.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 248,
"cds_start": 172,
"cds_end": null,
"cds_length": 748,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Pro49Ser",
"transcript": "ENST00000320054.4",
"protein_id": "ENSP00000367824.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 166,
"cds_start": 145,
"cds_end": null,
"cds_length": 503,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425923.1",
"protein_id": "XP_047281879.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 25790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425924.1",
"protein_id": "XP_047281880.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 13238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425925.1",
"protein_id": "XP_047281881.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 7153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425926.1",
"protein_id": "XP_047281882.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 24593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425927.1",
"protein_id": "XP_047281883.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 18860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425928.1",
"protein_id": "XP_047281884.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
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"cdna_start": 312,
"cdna_end": null,
"cdna_length": 19088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425929.1",
"protein_id": "XP_047281885.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
"cds_start": 190,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 24587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"transcript": "XM_047425930.1",
"protein_id": "XP_047281886.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 342,
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"phenotype_combined": "not specified",
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}
],
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}