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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: X-107069280-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=107069280&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 107069280,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001324243.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1122G>C",
"hgvs_p": "p.Arg374Ser",
"transcript": "NM_001324242.2",
"protein_id": "NP_001311171.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000685964.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324242.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1122G>C",
"hgvs_p": "p.Arg374Ser",
"transcript": "ENST00000685964.1",
"protein_id": "ENSP00000509650.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 437,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001324242.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685964.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Arg350Ser",
"transcript": "ENST00000372479.8",
"protein_id": "ENSP00000361557.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 413,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372479.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1227G>C",
"hgvs_p": "p.Arg409Ser",
"transcript": "NM_001324243.1",
"protein_id": "NP_001311172.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 472,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324243.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Arg402Ser",
"transcript": "ENST00000965480.1",
"protein_id": "ENSP00000635539.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 465,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965480.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1173G>C",
"hgvs_p": "p.Arg391Ser",
"transcript": "NM_001394116.1",
"protein_id": "NP_001381045.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 454,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394116.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1155G>C",
"hgvs_p": "p.Arg385Ser",
"transcript": "NM_001394117.1",
"protein_id": "NP_001381046.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 448,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394117.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1113G>C",
"hgvs_p": "p.Arg371Ser",
"transcript": "ENST00000965481.1",
"protein_id": "ENSP00000635540.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 434,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965481.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1122G>C",
"hgvs_p": "p.Arg374Ser",
"transcript": "NM_001324244.2",
"protein_id": "NP_001311173.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 429,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324244.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1083G>C",
"hgvs_p": "p.Arg361Ser",
"transcript": "NM_001394118.1",
"protein_id": "NP_001381047.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 416,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394118.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Arg350Ser",
"transcript": "NM_001394119.1",
"protein_id": "NP_001381048.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 413,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394119.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Arg350Ser",
"transcript": "NM_018301.5",
"protein_id": "NP_060771.3",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 413,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018301.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1047G>C",
"hgvs_p": "p.Arg349Ser",
"transcript": "ENST00000879623.1",
"protein_id": "ENSP00000549682.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 412,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879623.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Arg350Ser",
"transcript": "NM_001394120.1",
"protein_id": "NP_001381049.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 406,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394120.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Arg350Ser",
"transcript": "NM_001171080.2",
"protein_id": "NP_001164551.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 405,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171080.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Arg350Ser",
"transcript": "ENST00000372487.5",
"protein_id": "ENSP00000361565.1",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 405,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372487.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.978G>C",
"hgvs_p": "p.Arg326Ser",
"transcript": "NM_001394121.1",
"protein_id": "NP_001381050.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 389,
"cds_start": 978,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394121.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.978G>C",
"hgvs_p": "p.Arg326Ser",
"transcript": "ENST00000879624.1",
"protein_id": "ENSP00000549683.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 389,
"cds_start": 978,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879624.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.1050G>C",
"hgvs_p": "p.Arg350Ser",
"transcript": "NM_001394122.1",
"protein_id": "NP_001381051.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 364,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394122.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.858G>C",
"hgvs_p": "p.Arg286Ser",
"transcript": "NM_001394123.1",
"protein_id": "NP_001381052.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 349,
"cds_start": 858,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394123.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.858G>C",
"hgvs_p": "p.Arg286Ser",
"transcript": "NM_001394124.1",
"protein_id": "NP_001381053.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 341,
"cds_start": 858,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394124.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.753G>C",
"hgvs_p": "p.Arg251Ser",
"transcript": "NM_001394125.1",
"protein_id": "NP_001381054.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 314,
"cds_start": 753,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}