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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: 18-62187732-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62187732&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 62187732,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001346235.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "NM_001346231.2",
"protein_id": "NP_001333160.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1216,
"cds_start": 227,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644646.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346231.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000644646.2",
"protein_id": "ENSP00000494314.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1216,
"cds_start": 227,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001346231.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644646.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000398130.6",
"protein_id": "ENSP00000381198.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 1216,
"cds_start": 227,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398130.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.-2147C>T",
"hgvs_p": null,
"transcript": "NM_001346235.2",
"protein_id": "NP_001333164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346235.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000950689.1",
"protein_id": "ENSP00000620748.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1258,
"cds_start": 227,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950689.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "NM_001346229.2",
"protein_id": "NP_001333158.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1250,
"cds_start": 227,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346229.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000256858.10",
"protein_id": "ENSP00000256858.5",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 1250,
"cds_start": 227,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256858.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000882912.1",
"protein_id": "ENSP00000552971.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1250,
"cds_start": 227,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882912.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "NM_001346230.2",
"protein_id": "NP_001333159.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1224,
"cds_start": 227,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346230.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000882911.1",
"protein_id": "ENSP00000552970.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1224,
"cds_start": 227,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882911.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "NM_020854.4",
"protein_id": "NP_065905.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1216,
"cds_start": 227,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020854.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000939328.1",
"protein_id": "ENSP00000609387.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1215,
"cds_start": 227,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939328.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000939327.1",
"protein_id": "ENSP00000609386.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1213,
"cds_start": 227,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939327.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000950690.1",
"protein_id": "ENSP00000620749.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1213,
"cds_start": 227,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950690.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "NM_001346233.2",
"protein_id": "NP_001333162.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1212,
"cds_start": 227,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346233.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000882913.1",
"protein_id": "ENSP00000552972.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1212,
"cds_start": 227,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882913.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000939329.1",
"protein_id": "ENSP00000609388.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1212,
"cds_start": 227,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939329.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000882914.1",
"protein_id": "ENSP00000552973.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1192,
"cds_start": 227,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882914.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000882915.1",
"protein_id": "ENSP00000552974.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1192,
"cds_start": 227,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882915.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000939326.1",
"protein_id": "ENSP00000609385.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1184,
"cds_start": 227,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939326.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "NM_001346234.2",
"protein_id": "NP_001333163.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1163,
"cds_start": 227,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346234.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELCH",
"gene_hgnc_id": 29289,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "XM_011526111.3",
"protein_id": "XP_011524413.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 1224,
"cds_start": 227,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526111.3"
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"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001346235.2",
"gene_symbol": "RELCH",
"hgnc_id": 29289,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-2147C>T",
"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
}