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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: 6-43040959-AATCAGGACAGCT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43040959&ref=AATCAGGACAGCT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43040959,
"ref": "AATCAGGACAGCT",
"alt": "GC",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_001168370.2",
"consequences": [
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3750_3762delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1251fs",
"transcript": "NM_014780.5",
"protein_id": "NP_055595.2",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3750,
"cds_end": null,
"cds_length": 5097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265348.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014780.5"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3750_3762delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1251fs",
"transcript": "ENST00000265348.9",
"protein_id": "ENSP00000265348.4",
"transcript_support_level": 1,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3750,
"cds_end": null,
"cds_length": 5097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014780.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265348.9"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3846_3858delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1283fs",
"transcript": "NM_001168370.2",
"protein_id": "NP_001161842.2",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3846,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168370.2"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3846_3858delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1283fs",
"transcript": "NM_001374872.1",
"protein_id": "NP_001361801.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3846,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374872.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3846_3858delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1283fs",
"transcript": "ENST00000674100.1",
"protein_id": "ENSP00000501292.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3846,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674100.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3846_3858delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1283fs",
"transcript": "ENST00000674134.1",
"protein_id": "ENSP00000501068.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3846,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674134.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3846_3858delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1283fs",
"transcript": "ENST00000952316.1",
"protein_id": "ENSP00000622375.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3846,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952316.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3777_3789delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1260fs",
"transcript": "ENST00000857866.1",
"protein_id": "ENSP00000527925.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1707,
"cds_start": 3777,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857866.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3777_3789delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1260fs",
"transcript": "ENST00000930001.1",
"protein_id": "ENSP00000600060.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1707,
"cds_start": 3777,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930001.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3768_3780delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1257fs",
"transcript": "ENST00000952319.1",
"protein_id": "ENSP00000622378.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1704,
"cds_start": 3768,
"cds_end": null,
"cds_length": 5115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952319.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3750_3762delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1251fs",
"transcript": "NM_001374873.1",
"protein_id": "NP_001361802.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1702,
"cds_start": 3750,
"cds_end": null,
"cds_length": 5109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374873.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3750_3762delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1251fs",
"transcript": "ENST00000690231.1",
"protein_id": "ENSP00000508461.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3750,
"cds_end": null,
"cds_length": 5097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690231.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3750_3762delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1251fs",
"transcript": "ENST00000930002.1",
"protein_id": "ENSP00000600061.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3750,
"cds_end": null,
"cds_length": 5097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930002.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3750_3762delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1251fs",
"transcript": "ENST00000952317.1",
"protein_id": "ENSP00000622376.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3750,
"cds_end": null,
"cds_length": 5097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952317.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3747_3759delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1250fs",
"transcript": "NM_001374874.1",
"protein_id": "NP_001361803.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1697,
"cds_start": 3747,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374874.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3747_3759delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1250fs",
"transcript": "ENST00000952318.1",
"protein_id": "ENSP00000622377.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1697,
"cds_start": 3747,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952318.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3714_3726delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1239fs",
"transcript": "ENST00000857867.1",
"protein_id": "ENSP00000527926.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1686,
"cds_start": 3714,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857867.1"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3873_3885delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1292fs",
"transcript": "XM_017011533.2",
"protein_id": "XP_016867022.2",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1743,
"cds_start": 3873,
"cds_end": null,
"cds_length": 5232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011533.2"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3873_3885delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1292fs",
"transcript": "XM_017011534.2",
"protein_id": "XP_016867023.2",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1739,
"cds_start": 3873,
"cds_end": null,
"cds_length": 5220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011534.2"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3846_3858delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1283fs",
"transcript": "XM_011515019.3",
"protein_id": "XP_011513321.2",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1734,
"cds_start": 3846,
"cds_end": null,
"cds_length": 5205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515019.3"
},
{
"aa_ref": "QAVLI",
"aa_alt": "Q?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3777_3789delAGCTGTCCTGATTinsGC",
"hgvs_p": "p.Ala1260fs",
"transcript": "XM_017011535.2",
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000467906.5",
"gene_symbol": "KLC4",
"hgnc_id": 21624,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.-1169_-1157delAATCAGGACAGCTinsGC",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007059581.1",
"gene_symbol": "LOC124901318",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-77_-65delAATCAGGACAGCTinsGC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}