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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: 4-120821326-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=120821326&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 120821326,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001379104.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_018699.4",
"protein_id": "NP_061169.2",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 630,
"cds_start": 320,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264808.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018699.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000264808.8",
"protein_id": "ENSP00000264808.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 630,
"cds_start": 320,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018699.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264808.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000428209.6",
"protein_id": "ENSP00000404832.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 599,
"cds_start": 320,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428209.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000515109.5",
"protein_id": "ENSP00000422309.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 501,
"cds_start": 320,
"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": "ENST00000515109.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "n.393A>G",
"hgvs_p": null,
"transcript": "ENST00000505484.5",
"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": "retained_intron",
"feature": "ENST00000505484.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "n.407A>G",
"hgvs_p": null,
"transcript": "ENST00000512845.5",
"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": "retained_intron",
"feature": "ENST00000512845.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001379104.1",
"protein_id": "NP_001366033.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 641,
"cds_start": 320,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379104.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000940463.1",
"protein_id": "ENSP00000610522.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 641,
"cds_start": 320,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940463.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000940462.1",
"protein_id": "ENSP00000610521.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 610,
"cds_start": 320,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940462.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001300823.2",
"protein_id": "NP_001287752.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 599,
"cds_start": 320,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300823.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000898038.1",
"protein_id": "ENSP00000568097.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 595,
"cds_start": 320,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898038.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.236A>G",
"hgvs_p": "p.Tyr79Cys",
"transcript": "ENST00000898039.1",
"protein_id": "ENSP00000568098.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 571,
"cds_start": 236,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898039.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001379106.1",
"protein_id": "NP_001366035.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 564,
"cds_start": 320,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379106.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "ENST00000940461.1",
"protein_id": "ENSP00000610520.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 564,
"cds_start": 320,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940461.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001300824.2",
"protein_id": "NP_001287753.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 501,
"cds_start": 320,
"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_001300824.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Tyr81Cys",
"transcript": "XM_017007668.3",
"protein_id": "XP_016863157.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 615,
"cds_start": 242,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007668.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "XM_011531563.3",
"protein_id": "XP_011529865.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 610,
"cds_start": 320,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531563.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "XM_011531564.3",
"protein_id": "XP_011529866.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 606,
"cds_start": 320,
"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": "XM_011531564.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "XM_047449554.1",
"protein_id": "XP_047305510.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 595,
"cds_start": 320,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449554.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "XM_011531565.3",
"protein_id": "XP_011529867.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 589,
"cds_start": 320,
"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": "XM_011531565.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "XM_011531566.4",
"protein_id": "XP_011529868.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 589,
"cds_start": 320,
"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": "XM_011531566.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM5",
"gene_hgnc_id": 9349,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "XM_047449555.1",
"protein_id": "XP_047305511.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 578,
"cds_start": 320,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449555.1"
},
{
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"phenotype_combined": "Brittle cornea syndrome 2",
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}
],
"message": null
}