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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: 19-12015159-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12015159&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12015159,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001080411.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1699G>C",
"hgvs_p": "p.Ala567Pro",
"transcript": "NM_001308348.2",
"protein_id": "NP_001295277.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 670,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000550507.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308348.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1699G>C",
"hgvs_p": "p.Ala567Pro",
"transcript": "ENST00000550507.7",
"protein_id": "ENSP00000448099.2",
"transcript_support_level": 2,
"aa_start": 567,
"aa_end": null,
"aa_length": 670,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550507.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1741G>C",
"hgvs_p": "p.Ala581Pro",
"transcript": "ENST00000478765.6",
"protein_id": "ENSP00000447951.2",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 684,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478765.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Ala535Pro",
"transcript": "ENST00000419886.7",
"protein_id": "ENSP00000393416.2",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 638,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419886.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286098",
"gene_hgnc_id": null,
"hgvs_c": "c.-94+13337C>G",
"hgvs_p": null,
"transcript": "ENST00000652448.1",
"protein_id": "ENSP00000498410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF433-AS1",
"gene_hgnc_id": 53776,
"hgvs_c": "n.257-11035C>G",
"hgvs_p": null,
"transcript": "ENST00000406892.6",
"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": "ENST00000406892.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1741G>C",
"hgvs_p": "p.Ala581Pro",
"transcript": "ENST00000455504.7",
"protein_id": "ENSP00000414857.3",
"transcript_support_level": 5,
"aa_start": 581,
"aa_end": null,
"aa_length": 684,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455504.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Ala570Pro",
"transcript": "NM_001080411.3",
"protein_id": "NP_001073880.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 673,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080411.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Ala570Pro",
"transcript": "ENST00000344980.11",
"protein_id": "ENSP00000339767.6",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 673,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344980.11"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1705G>C",
"hgvs_p": "p.Ala569Pro",
"transcript": "NM_001308346.2",
"protein_id": "NP_001295275.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 672,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308346.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1705G>C",
"hgvs_p": "p.Ala569Pro",
"transcript": "ENST00000550745.3",
"protein_id": "ENSP00000447205.2",
"transcript_support_level": 3,
"aa_start": 569,
"aa_end": null,
"aa_length": 672,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550745.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Ala535Pro",
"transcript": "NM_001308351.2",
"protein_id": "NP_001295280.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 638,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308351.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Ala535Pro",
"transcript": "NM_001308355.2",
"protein_id": "NP_001295284.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 638,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308355.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Ala535Pro",
"transcript": "NM_001308357.2",
"protein_id": "NP_001295286.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 638,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308357.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Ala535Pro",
"transcript": "ENST00000547560.6",
"protein_id": "ENSP00000448806.2",
"transcript_support_level": 3,
"aa_start": 535,
"aa_end": null,
"aa_length": 638,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547560.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Ala535Pro",
"transcript": "ENST00000552904.6",
"protein_id": "ENSP00000448233.2",
"transcript_support_level": 4,
"aa_start": 535,
"aa_end": null,
"aa_length": 638,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552904.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1558G>C",
"hgvs_p": "p.Ala520Pro",
"transcript": "ENST00000870917.1",
"protein_id": "ENSP00000540976.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 623,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870917.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1750G>C",
"hgvs_p": "p.Ala584Pro",
"transcript": "XM_047438319.1",
"protein_id": "XP_047294275.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 687,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438319.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1741G>C",
"hgvs_p": "p.Ala581Pro",
"transcript": "XM_011527725.3",
"protein_id": "XP_011526027.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 684,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527725.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1705G>C",
"hgvs_p": "p.Ala569Pro",
"transcript": "XM_011527728.3",
"protein_id": "XP_011526030.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 672,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527728.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1705G>C",
"hgvs_p": "p.Ala569Pro",
"transcript": "XM_011527729.3",
"protein_id": "XP_011526031.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 672,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527729.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF433",
"gene_hgnc_id": 20811,
"hgvs_c": "c.1603G>C",
"hgvs_p": "p.Ala535Pro",
"transcript": "XM_006722661.4",
"protein_id": "XP_006722724.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 638,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.54,
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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},
{
"score": 1,
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"BP4"
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"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}