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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: 12-6673414-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6673414&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6673414,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001385743.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Tyr269Cys",
"transcript": "NM_001385745.1",
"protein_id": "NP_001372674.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 608,
"cds_start": 806,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": "ENST00000683879.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385745.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Tyr269Cys",
"transcript": "ENST00000683879.1",
"protein_id": "ENSP00000507462.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 608,
"cds_start": 806,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": "NM_001385745.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683879.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.548A>G",
"hgvs_p": "p.Tyr183Cys",
"transcript": "ENST00000355772.8",
"protein_id": "ENSP00000348018.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 461,
"cds_start": 548,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355772.8"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "ENST00000542519.1",
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000542519.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.857A>G",
"hgvs_p": "p.Tyr286Cys",
"transcript": "ENST00000710399.1",
"protein_id": "ENSP00000518253.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 625,
"cds_start": 857,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710399.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Tyr269Cys",
"transcript": "NM_001385743.1",
"protein_id": "NP_001372672.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 608,
"cds_start": 806,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385743.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Tyr269Cys",
"transcript": "NM_001385744.1",
"protein_id": "NP_001372673.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 608,
"cds_start": 806,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385744.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Tyr269Cys",
"transcript": "NM_001385746.1",
"protein_id": "NP_001372675.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 608,
"cds_start": 806,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385746.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Tyr269Cys",
"transcript": "NM_001385747.1",
"protein_id": "NP_001372676.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 608,
"cds_start": 806,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385747.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.758A>G",
"hgvs_p": "p.Tyr253Cys",
"transcript": "NM_001385748.1",
"protein_id": "NP_001372677.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 592,
"cds_start": 758,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385748.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.758A>G",
"hgvs_p": "p.Tyr253Cys",
"transcript": "NM_001385749.1",
"protein_id": "NP_001372678.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 592,
"cds_start": 758,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385749.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001135734.3",
"protein_id": "NP_001129206.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135734.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385750.1",
"protein_id": "NP_001372679.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385750.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385751.1",
"protein_id": "NP_001372680.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385751.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385752.1",
"protein_id": "NP_001372681.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385752.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385753.1",
"protein_id": "NP_001372682.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385753.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385754.1",
"protein_id": "NP_001372683.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385754.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385755.1",
"protein_id": "NP_001372684.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385755.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385756.1",
"protein_id": "NP_001372685.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385756.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "NM_001385757.1",
"protein_id": "NP_001372686.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385757.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "ENST00000361959.7",
"protein_id": "ENSP00000354592.3",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361959.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Tyr238Cys",
"transcript": "ENST00000396801.7",
"protein_id": "ENSP00000380019.3",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 577,
"cds_start": 713,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 921,
"cdna_end": null,
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{
"aa_ref": null,
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"non_coding_transcript_exon_variant"
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{
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"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 2,
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"biotype": "retained_intron",
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],
"gene_symbol": "ZNF384",
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"dbsnp": "rs766392210",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31965041160583496,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.6321,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.422,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001385743.1",
"gene_symbol": "ZNF384",
"hgnc_id": 11955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.806A>G",
"hgvs_p": "p.Tyr269Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}