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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: 19-3531790-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3531790&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3531790,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001136198.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "NM_016263.4",
"protein_id": "NP_057347.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": "ENST00000441788.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016263.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000441788.7",
"protein_id": "ENSP00000410369.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": "NM_016263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441788.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000395095.7",
"protein_id": "ENSP00000378529.2",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 496,
"cds_start": 797,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395095.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Met177Thr",
"transcript": "ENST00000313639.8",
"protein_id": "ENSP00000321800.7",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 404,
"cds_start": 530,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313639.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000928283.1",
"protein_id": "ENSP00000598342.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 536,
"cds_start": 797,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928283.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876601.1",
"protein_id": "ENSP00000546660.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 533,
"cds_start": 797,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876601.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876599.1",
"protein_id": "ENSP00000546658.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 515,
"cds_start": 797,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876599.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "NM_001136198.1",
"protein_id": "NP_001129670.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 496,
"cds_start": 797,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136198.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000652521.1",
"protein_id": "ENSP00000498659.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652521.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876600.1",
"protein_id": "ENSP00000546659.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876600.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876604.1",
"protein_id": "ENSP00000546663.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876604.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876605.1",
"protein_id": "ENSP00000546664.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876605.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000928282.1",
"protein_id": "ENSP00000598341.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 5316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928282.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000928284.1",
"protein_id": "ENSP00000598343.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928284.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000928286.1",
"protein_id": "ENSP00000598345.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928286.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000951911.1",
"protein_id": "ENSP00000621970.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951911.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000951912.1",
"protein_id": "ENSP00000621971.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951912.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000951913.1",
"protein_id": "ENSP00000621972.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 493,
"cds_start": 797,
"cds_end": null,
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"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951913.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876603.1",
"protein_id": "ENSP00000546662.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 475,
"cds_start": 797,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876603.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876598.1",
"protein_id": "ENSP00000546657.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 472,
"cds_start": 797,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876598.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000876602.1",
"protein_id": "ENSP00000546661.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 472,
"cds_start": 797,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876602.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Met266Thr",
"transcript": "ENST00000928285.1",
"protein_id": "ENSP00000598344.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 415,
"cds_start": 797,
"cds_end": null,
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{
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"verdict": "Benign",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}