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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: 12-124012885-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=124012885&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 124012885,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152437.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "NM_152437.3",
"protein_id": "NP_689650.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": "ENST00000337815.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152437.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000337815.9",
"protein_id": "ENSP00000337320.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": "NM_152437.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337815.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000392404.7",
"protein_id": "ENSP00000376205.3",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392404.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000539644.5",
"protein_id": "ENSP00000441405.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539644.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "NM_001204298.2",
"protein_id": "NP_001191227.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204298.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000538932.6",
"protein_id": "ENSP00000440645.1",
"transcript_support_level": 3,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538932.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901659.1",
"protein_id": "ENSP00000571718.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901659.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901660.1",
"protein_id": "ENSP00000571719.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901660.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901661.1",
"protein_id": "ENSP00000571720.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901661.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901662.1",
"protein_id": "ENSP00000571721.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901662.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901663.1",
"protein_id": "ENSP00000571722.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901663.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901664.1",
"protein_id": "ENSP00000571723.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901664.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901665.1",
"protein_id": "ENSP00000571724.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901665.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901666.1",
"protein_id": "ENSP00000571725.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901666.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901667.1",
"protein_id": "ENSP00000571726.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901667.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901668.1",
"protein_id": "ENSP00000571727.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901668.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901669.1",
"protein_id": "ENSP00000571728.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901669.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901670.1",
"protein_id": "ENSP00000571729.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901670.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901671.1",
"protein_id": "ENSP00000571730.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901671.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901672.1",
"protein_id": "ENSP00000571731.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901672.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901673.1",
"protein_id": "ENSP00000571732.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901673.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF664",
"gene_hgnc_id": 25406,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Arg247Ser",
"transcript": "ENST00000901674.1",
"protein_id": "ENSP00000571733.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 261,
"cds_start": 741,
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{
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}