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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: 5-69320282-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69320282&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 69320282,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_176816.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "NM_176816.5",
"protein_id": "NP_789786.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 511,
"cds_start": 259,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396496.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176816.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "ENST00000396496.7",
"protein_id": "ENSP00000379754.2",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 511,
"cds_start": 259,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_176816.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396496.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "ENST00000396499.5",
"protein_id": "ENSP00000379756.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 511,
"cds_start": 259,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396499.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "n.183C>T",
"hgvs_p": null,
"transcript": "ENST00000460090.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460090.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "ENST00000878001.1",
"protein_id": "ENSP00000548060.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 511,
"cds_start": 259,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878001.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "ENST00000877999.1",
"protein_id": "ENSP00000548058.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 505,
"cds_start": 259,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877999.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "ENST00000878000.1",
"protein_id": "ENSP00000548059.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 505,
"cds_start": 259,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878000.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "NM_001297696.2",
"protein_id": "NP_001284625.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 348,
"cds_start": 259,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297696.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "ENST00000383374.6",
"protein_id": "ENSP00000372865.2",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 312,
"cds_start": 259,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383374.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_005248458.6",
"protein_id": "XP_005248515.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 511,
"cds_start": 259,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248458.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_011543255.4",
"protein_id": "XP_011541557.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 511,
"cds_start": 259,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543255.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_011543256.4",
"protein_id": "XP_011541558.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 511,
"cds_start": 259,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543256.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_005248459.6",
"protein_id": "XP_005248516.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 510,
"cds_start": 259,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248459.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_017009206.3",
"protein_id": "XP_016864695.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 510,
"cds_start": 259,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009206.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_024454396.2",
"protein_id": "XP_024310164.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 510,
"cds_start": 259,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454396.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_047416893.1",
"protein_id": "XP_047272849.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 506,
"cds_start": 259,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416893.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_047416894.1",
"protein_id": "XP_047272850.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 505,
"cds_start": 259,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416894.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_047416895.1",
"protein_id": "XP_047272851.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 505,
"cds_start": 259,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416895.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_047416896.1",
"protein_id": "XP_047272852.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 475,
"cds_start": 259,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416896.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_047416897.1",
"protein_id": "XP_047272853.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 474,
"cds_start": 259,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416897.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_011543258.3",
"protein_id": "XP_011541560.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 471,
"cds_start": 259,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543258.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC125",
"gene_hgnc_id": 28924,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Pro87Ser",
"transcript": "XM_011543259.3",
"protein_id": "XP_011541561.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 468,
"cds_start": 259,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543259.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
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"phenotype_combined": "not specified",
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}
],
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}