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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: 11-77891462-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77891462&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77891462,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_033547.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2449A>G",
"hgvs_p": "p.Ile817Val",
"transcript": "NM_033547.4",
"protein_id": "NP_291025.3",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 963,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": "ENST00000534064.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2449A>G",
"hgvs_p": "p.Ile817Val",
"transcript": "ENST00000534064.6",
"protein_id": "ENSP00000434466.1",
"transcript_support_level": 1,
"aa_start": 817,
"aa_end": null,
"aa_length": 963,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": "NM_033547.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2360A>G",
"hgvs_p": null,
"transcript": "ENST00000433818.6",
"protein_id": "ENSP00000407787.2",
"transcript_support_level": 1,
"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": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2360A>G",
"hgvs_p": null,
"transcript": "ENST00000433818.6",
"protein_id": "ENSP00000407787.2",
"transcript_support_level": 1,
"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": 3459,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.329-9109T>C",
"hgvs_p": null,
"transcript": "ENST00000304716.12",
"protein_id": "ENSP00000307254.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 619,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.228+21645T>C",
"hgvs_p": null,
"transcript": "ENST00000532481.5",
"protein_id": "ENSP00000433293.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": -4,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2599A>G",
"hgvs_p": "p.Ile867Val",
"transcript": "ENST00000695102.1",
"protein_id": "ENSP00000511693.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2599,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 4258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2449A>G",
"hgvs_p": "p.Ile817Val",
"transcript": "ENST00000696971.1",
"protein_id": "ENSP00000513007.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 963,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Ile807Val",
"transcript": "ENST00000695310.1",
"protein_id": "ENSP00000511799.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 953,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Ile797Val",
"transcript": "ENST00000695316.1",
"protein_id": "ENSP00000511801.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 943,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2368A>G",
"hgvs_p": "p.Ile790Val",
"transcript": "ENST00000695103.1",
"protein_id": "ENSP00000511694.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 936,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2449A>G",
"hgvs_p": "p.Ile817Val",
"transcript": "ENST00000695104.1",
"protein_id": "ENSP00000511695.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 931,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2449A>G",
"hgvs_p": "p.Ile817Val",
"transcript": "ENST00000695096.1",
"protein_id": "ENSP00000511686.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 910,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2119A>G",
"hgvs_p": "p.Ile707Val",
"transcript": "ENST00000695308.1",
"protein_id": "ENSP00000511797.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 853,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Ile705Val",
"transcript": "ENST00000695304.1",
"protein_id": "ENSP00000511793.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 851,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2449A>G",
"hgvs_p": "p.Ile817Val",
"transcript": "XM_017018560.3",
"protein_id": "XP_016874049.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 910,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2221A>G",
"hgvs_p": null,
"transcript": "ENST00000524766.6",
"protein_id": "ENSP00000436248.1",
"transcript_support_level": 3,
"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": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*1158A>G",
"hgvs_p": null,
"transcript": "ENST00000525931.2",
"protein_id": "ENSP00000511688.1",
"transcript_support_level": 3,
"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": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.1269A>G",
"hgvs_p": null,
"transcript": "ENST00000531059.2",
"protein_id": null,
"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": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*667A>G",
"hgvs_p": null,
"transcript": "ENST00000535943.2",
"protein_id": "ENSP00000441084.2",
"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": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*1943A>G",
"hgvs_p": null,
"transcript": "ENST00000695097.1",
"protein_id": "ENSP00000511687.1",
"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": 5460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2328A>G",
"hgvs_p": null,
"transcript": "ENST00000695098.1",
"protein_id": "ENSP00000511689.1",
"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": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}