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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-107088659-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=107088659&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 107088659,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001324243.1",
"consequences": [
{
"aa_ref": "L",
"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.776T>C",
"hgvs_p": "p.Leu259Ser",
"transcript": "NM_001324242.2",
"protein_id": "NP_001311171.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 437,
"cds_start": 776,
"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": "L",
"aa_alt": "S",
"canonical": true,
"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.776T>C",
"hgvs_p": "p.Leu259Ser",
"transcript": "ENST00000685964.1",
"protein_id": "ENSP00000509650.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 437,
"cds_start": 776,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "ENST00000372479.8",
"protein_id": "ENSP00000361557.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 413,
"cds_start": 704,
"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": "L",
"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.881T>C",
"hgvs_p": "p.Leu294Ser",
"transcript": "NM_001324243.1",
"protein_id": "NP_001311172.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 472,
"cds_start": 881,
"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": "L",
"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.860T>C",
"hgvs_p": "p.Leu287Ser",
"transcript": "ENST00000965480.1",
"protein_id": "ENSP00000635539.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 465,
"cds_start": 860,
"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": "L",
"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.827T>C",
"hgvs_p": "p.Leu276Ser",
"transcript": "NM_001394116.1",
"protein_id": "NP_001381045.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 454,
"cds_start": 827,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.809T>C",
"hgvs_p": "p.Leu270Ser",
"transcript": "NM_001394117.1",
"protein_id": "NP_001381046.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 448,
"cds_start": 809,
"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": "L",
"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.767T>C",
"hgvs_p": "p.Leu256Ser",
"transcript": "ENST00000965481.1",
"protein_id": "ENSP00000635540.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 434,
"cds_start": 767,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.776T>C",
"hgvs_p": "p.Leu259Ser",
"transcript": "NM_001324244.2",
"protein_id": "NP_001311173.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 429,
"cds_start": 776,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.809T>C",
"hgvs_p": "p.Leu270Ser",
"transcript": "NM_001394118.1",
"protein_id": "NP_001381047.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 416,
"cds_start": 809,
"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": "L",
"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.776T>C",
"hgvs_p": "p.Leu259Ser",
"transcript": "NM_001394119.1",
"protein_id": "NP_001381048.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 413,
"cds_start": 776,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "NM_018301.5",
"protein_id": "NP_060771.3",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 413,
"cds_start": 704,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Leu234Ser",
"transcript": "ENST00000879623.1",
"protein_id": "ENSP00000549682.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 412,
"cds_start": 701,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "NM_001394120.1",
"protein_id": "NP_001381049.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 406,
"cds_start": 704,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "NM_001171080.2",
"protein_id": "NP_001164551.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 405,
"cds_start": 704,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "ENST00000372487.5",
"protein_id": "ENSP00000361565.1",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 405,
"cds_start": 704,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "NM_001394121.1",
"protein_id": "NP_001381050.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 389,
"cds_start": 704,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "ENST00000879624.1",
"protein_id": "ENSP00000549683.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 389,
"cds_start": 704,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Leu235Ser",
"transcript": "NM_001394122.1",
"protein_id": "NP_001381051.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 364,
"cds_start": 704,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.881T>C",
"hgvs_p": "p.Leu294Ser",
"transcript": "XM_011530980.4",
"protein_id": "XP_011529282.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 464,
"cds_start": 881,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530980.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM41",
"gene_hgnc_id": 25617,
"hgvs_c": "c.809T>C",
"hgvs_p": "p.Leu270Ser",
"transcript": "XM_047442237.1",
"protein_id": "XP_047298193.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 440,
"cds_start": 809,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442237.1"
},
{
"aa_ref": "L",
"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.647T>C",
"hgvs_p": "p.Leu216Ser",
"transcript": "XM_047442238.1",
"protein_id": "XP_047298194.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 394,
"cds_start": 647,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442238.1"
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"phenotype_combined": "not specified",
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}
],
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}