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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: 6-43043155-CCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43043155&ref=CCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43043155,
"ref": "CCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000265348.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3379_3380delTG",
"hgvs_p": "p.Trp1127fs",
"transcript": "NM_014780.5",
"protein_id": "NP_055595.2",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3379,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3618,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "ENST00000265348.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3379_3380delTG",
"hgvs_p": "p.Trp1127fs",
"transcript": "ENST00000265348.9",
"protein_id": "ENSP00000265348.4",
"transcript_support_level": 1,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3379,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3618,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "NM_014780.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3475_3476delTG",
"hgvs_p": "p.Trp1159fs",
"transcript": "NM_001168370.2",
"protein_id": "NP_001161842.2",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3475,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3475_3476delTG",
"hgvs_p": "p.Trp1159fs",
"transcript": "NM_001374872.1",
"protein_id": "NP_001361801.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3475,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3475_3476delTG",
"hgvs_p": "p.Trp1159fs",
"transcript": "ENST00000674100.1",
"protein_id": "ENSP00000501292.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3475,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3475_3476delTG",
"hgvs_p": "p.Trp1159fs",
"transcript": "ENST00000674134.1",
"protein_id": "ENSP00000501068.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3475,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 3664,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3379_3380delTG",
"hgvs_p": "p.Trp1127fs",
"transcript": "NM_001374873.1",
"protein_id": "NP_001361802.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1702,
"cds_start": 3379,
"cds_end": null,
"cds_length": 5109,
"cdna_start": 3618,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3379_3380delTG",
"hgvs_p": "p.Trp1127fs",
"transcript": "ENST00000690231.1",
"protein_id": "ENSP00000508461.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3379,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3580,
"cdna_end": null,
"cdna_length": 5354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3376_3377delTG",
"hgvs_p": "p.Trp1126fs",
"transcript": "NM_001374874.1",
"protein_id": "NP_001361803.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1697,
"cds_start": 3376,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3502_3503delTG",
"hgvs_p": "p.Trp1168fs",
"transcript": "XM_017011533.2",
"protein_id": "XP_016867022.2",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1743,
"cds_start": 3502,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 3652,
"cdna_end": null,
"cdna_length": 5452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3502_3503delTG",
"hgvs_p": "p.Trp1168fs",
"transcript": "XM_017011534.2",
"protein_id": "XP_016867023.2",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1739,
"cds_start": 3502,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 3652,
"cdna_end": null,
"cdna_length": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3475_3476delTG",
"hgvs_p": "p.Trp1159fs",
"transcript": "XM_011515019.3",
"protein_id": "XP_011513321.2",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1734,
"cds_start": 3475,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3406_3407delTG",
"hgvs_p": "p.Trp1136fs",
"transcript": "XM_017011535.2",
"protein_id": "XP_016867024.2",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1711,
"cds_start": 3406,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 3556,
"cdna_end": null,
"cdna_length": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3406_3407delTG",
"hgvs_p": "p.Trp1136fs",
"transcript": "XM_047419600.1",
"protein_id": "XP_047275556.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1707,
"cds_start": 3406,
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"cdna_start": 3556,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3379_3380delTG",
"hgvs_p": "p.Trp1127fs",
"transcript": "XM_011515020.3",
"protein_id": "XP_011513322.2",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1702,
"cds_start": 3379,
"cds_end": null,
"cds_length": 5109,
"cdna_start": 3529,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3379_3380delTG",
"hgvs_p": "p.Trp1127fs",
"transcript": "XM_005249503.4",
"protein_id": "XP_005249560.2",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
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"cds_start": 3379,
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"cdna_start": 3529,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.1240_1241delTG",
"hgvs_p": "p.Trp414fs",
"transcript": "XM_011515021.2",
"protein_id": "XP_011513323.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 989,
"cds_start": 1240,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.1240_1241delTG",
"hgvs_p": "p.Trp414fs",
"transcript": "XM_047419601.1",
"protein_id": "XP_047275557.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 985,
"cds_start": 1240,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC4",
"gene_hgnc_id": 21624,
"hgvs_c": "n.-905_-904delCA",
"hgvs_p": null,
"transcript": "ENST00000467906.5",
"protein_id": "ENSP00000418759.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.1450_1451delTG",
"hgvs_p": null,
"transcript": "ENST00000478630.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.1327_1328delTG",
"hgvs_p": null,
"transcript": "ENST00000673725.1",
"protein_id": "ENSP00000500980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.4218_4219delTG",
"hgvs_p": null,
"transcript": "ENST00000673753.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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{
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{
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],
"clinvar_disease": "3M syndrome 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "3M syndrome 1|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}