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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: 10-59252971-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59252971&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 59252971,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_198215.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454Cys",
"transcript": "NM_198215.4",
"protein_id": "NP_937858.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 585,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618804.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198215.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454Cys",
"transcript": "ENST00000618804.5",
"protein_id": "ENSP00000481854.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 585,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198215.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618804.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Arg356Cys",
"transcript": "ENST00000611933.4",
"protein_id": "ENSP00000481830.1",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 487,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611933.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476Cys",
"transcript": "ENST00000951024.1",
"protein_id": "ENSP00000621083.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 607,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951024.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Cys",
"transcript": "ENST00000614220.4",
"protein_id": "ENSP00000483510.1",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 606,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614220.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474Cys",
"transcript": "ENST00000621119.4",
"protein_id": "ENSP00000484625.1",
"transcript_support_level": 5,
"aa_start": 474,
"aa_end": null,
"aa_length": 605,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621119.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Cys",
"transcript": "ENST00000951023.1",
"protein_id": "ENSP00000621082.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 589,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951023.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454Cys",
"transcript": "NM_001347852.2",
"protein_id": "NP_001334781.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 573,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347852.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454Cys",
"transcript": "ENST00000435852.6",
"protein_id": "ENSP00000392302.2",
"transcript_support_level": 2,
"aa_start": 454,
"aa_end": null,
"aa_length": 573,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435852.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Cys",
"transcript": "NM_001347849.2",
"protein_id": "NP_001334778.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 572,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347849.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "NM_001143773.1",
"protein_id": "NP_001137245.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143773.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "NM_001347840.2",
"protein_id": "NP_001334769.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347840.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "NM_001347847.1",
"protein_id": "NP_001334776.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347847.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "ENST00000468840.6",
"protein_id": "ENSP00000423896.1",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 502,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468840.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370Cys",
"transcript": "NM_001166698.2",
"protein_id": "NP_001160170.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 501,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166698.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370Cys",
"transcript": "NM_001347842.2",
"protein_id": "NP_001334771.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 501,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347842.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370Cys",
"transcript": "NM_001347844.1",
"protein_id": "NP_001334773.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 501,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347844.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370Cys",
"transcript": "ENST00000618427.4",
"protein_id": "ENSP00000480677.1",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 501,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618427.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "NM_001347848.1",
"protein_id": "NP_001334777.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 492,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347848.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Cys",
"transcript": "NM_001347850.2",
"protein_id": "NP_001334779.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 492,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347850.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "NM_001347846.1",
"protein_id": "NP_001334775.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 490,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347846.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Cys",
"transcript": "NM_001347851.2",
"protein_id": "NP_001334780.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 490,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}