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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: 18-58341146-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58341146&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58341146,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000400345.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Thr412Ala",
"transcript": "NM_001144967.3",
"protein_id": "NP_001138439.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 975,
"cds_start": 1234,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": "ENST00000400345.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Thr412Ala",
"transcript": "ENST00000400345.8",
"protein_id": "ENSP00000383199.2",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 975,
"cds_start": 1234,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": "NM_001144967.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Thr404Ala",
"transcript": "ENST00000357895.9",
"protein_id": "ENSP00000350569.4",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 967,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Thr392Ala",
"transcript": "ENST00000382850.8",
"protein_id": "ENSP00000372301.3",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 955,
"cds_start": 1174,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Thr384Ala",
"transcript": "ENST00000586263.5",
"protein_id": "ENSP00000468546.1",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 947,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"transcript": "ENST00000431212.6",
"protein_id": "ENSP00000389406.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 854,
"cds_start": 871,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"transcript": "ENST00000456986.5",
"protein_id": "ENSP00000411947.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 854,
"cds_start": 871,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 8436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.811A>G",
"hgvs_p": "p.Thr271Ala",
"transcript": "ENST00000435432.6",
"protein_id": "ENSP00000393395.1",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 834,
"cds_start": 811,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.811A>G",
"hgvs_p": "p.Thr271Ala",
"transcript": "ENST00000456173.6",
"protein_id": "ENSP00000405440.1",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 834,
"cds_start": 811,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1066-532A>G",
"hgvs_p": null,
"transcript": "ENST00000356462.10",
"protein_id": "ENSP00000348847.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2071A>G",
"hgvs_p": "p.Thr691Ala",
"transcript": "NM_001437337.1",
"protein_id": "NP_001424266.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2071,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2071A>G",
"hgvs_p": "p.Thr691Ala",
"transcript": "ENST00000635997.1",
"protein_id": "ENSP00000490696.1",
"transcript_support_level": 5,
"aa_start": 691,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2071,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Thr404Ala",
"transcript": "NM_001144968.2",
"protein_id": "NP_001138440.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 967,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 8390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Thr392Ala",
"transcript": "NM_015277.6",
"protein_id": "NP_056092.2",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 955,
"cds_start": 1174,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Thr385Ala",
"transcript": "ENST00000675147.1",
"protein_id": "ENSP00000501840.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 948,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Thr384Ala",
"transcript": "NM_001144969.2",
"protein_id": "NP_001138441.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 947,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 8330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1135A>G",
"hgvs_p": "p.Thr379Ala",
"transcript": "ENST00000676223.1",
"protein_id": "ENSP00000502361.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 942,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Thr367Ala",
"transcript": "ENST00000675221.1",
"protein_id": "ENSP00000502761.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 930,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Thr392Ala",
"transcript": "ENST00000676024.1",
"protein_id": "ENSP00000502105.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 863,
"cds_start": 1174,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"transcript": "NM_001144964.1",
"protein_id": "NP_001138436.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 854,
"cds_start": 871,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 8436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"transcript": "NM_001144965.2",
"protein_id": "NP_001138437.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 854,
"cds_start": 871,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 8400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"transcript": "NM_001144966.3",
"protein_id": "NP_001138438.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 854,
"cds_start": 871,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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],
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"acmg_by_gene": [
{
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}