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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: 17-59088345-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59088345&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59088345,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000262294.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_015294.6",
"protein_id": "NP_056109.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 964,
"cds_start": 227,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": "ENST00000262294.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000262294.12",
"protein_id": "ENSP00000262294.7",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 964,
"cds_start": 227,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": "NM_015294.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000393066.7",
"protein_id": "ENSP00000376785.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 964,
"cds_start": 227,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3622,
"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": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.*99T>C",
"hgvs_p": null,
"transcript": "ENST00000577554.5",
"protein_id": "ENSP00000462340.1",
"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": 4310,
"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": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.*99T>C",
"hgvs_p": null,
"transcript": "ENST00000577554.5",
"protein_id": "ENSP00000462340.1",
"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": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.-148T>C",
"hgvs_p": null,
"transcript": "NM_001353085.2",
"protein_id": "NP_001340014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": -4,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.-140T>C",
"hgvs_p": null,
"transcript": "NM_001320990.3",
"protein_id": "NP_001307919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.-526T>C",
"hgvs_p": null,
"transcript": "NM_001353083.2",
"protein_id": "NP_001340012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": -4,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_001353084.2",
"protein_id": "NP_001340013.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 973,
"cds_start": 227,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_001005207.5",
"protein_id": "NP_001005207.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 964,
"cds_start": 227,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_001353086.2",
"protein_id": "NP_001340015.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 947,
"cds_start": 227,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Leu42Pro",
"transcript": "NM_001353082.2",
"protein_id": "NP_001340011.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 939,
"cds_start": 125,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Leu42Pro",
"transcript": "NM_001320987.3",
"protein_id": "NP_001307916.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 930,
"cds_start": 125,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Leu42Pro",
"transcript": "ENST00000393065.6",
"protein_id": "ENSP00000376784.2",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 930,
"cds_start": 125,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_001320988.3",
"protein_id": "NP_001307917.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 925,
"cds_start": 227,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_001320989.3",
"protein_id": "NP_001307918.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 925,
"cds_start": 227,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000584889.3",
"protein_id": "ENSP00000464263.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 103,
"cds_start": 227,
"cds_end": null,
"cds_length": 312,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "XM_011524831.2",
"protein_id": "XP_011523133.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 998,
"cds_start": 227,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "XM_017024662.2",
"protein_id": "XP_016880151.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 995,
"cds_start": 227,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "XM_011524832.3",
"protein_id": "XP_011523134.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 989,
"cds_start": 227,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 6609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "XM_017024663.3",
"protein_id": "XP_016880152.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 986,
"cds_start": 227,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 6209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "XM_011524833.2",
"protein_id": "XP_011523135.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 981,
"cds_start": 227,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
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"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Mulibrey nanism syndrome|TRIM37-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
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}