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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: 3-10286782-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10286782&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10286782,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_016362.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "NM_016362.5",
"protein_id": "NP_057446.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335542.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016362.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "ENST00000335542.13",
"protein_id": "ENSP00000335074.8",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016362.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335542.13"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "ENST00000429122.1",
"protein_id": "ENSP00000414819.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429122.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "ENST00000457360.5",
"protein_id": "ENSP00000391406.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457360.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.252delG",
"hgvs_p": "p.Lys84fs",
"transcript": "ENST00000287656.11",
"protein_id": "ENSP00000287656.7",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 116,
"cds_start": 252,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287656.11"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.252delG",
"hgvs_p": "p.Lys84fs",
"transcript": "ENST00000430179.5",
"protein_id": "ENSP00000399922.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 116,
"cds_start": 252,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430179.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.219delG",
"hgvs_p": "p.Lys73fs",
"transcript": "ENST00000437422.6",
"protein_id": "ENSP00000416768.2",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 105,
"cds_start": 219,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437422.6"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.216delG",
"hgvs_p": "p.Lys72fs",
"transcript": "ENST00000449238.6",
"protein_id": "ENSP00000388145.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 104,
"cds_start": 216,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449238.6"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.102delG",
"hgvs_p": "p.Lys34fs",
"transcript": "ENST00000439975.6",
"protein_id": "ENSP00000403725.2",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 66,
"cds_start": 102,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439975.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.226-889delG",
"hgvs_p": null,
"transcript": "ENST00000422159.5",
"protein_id": "ENSP00000405464.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422159.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.73-889delG",
"hgvs_p": null,
"transcript": "ENST00000446937.2",
"protein_id": "ENSP00000394923.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446937.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.375delG",
"hgvs_p": null,
"transcript": "ENST00000475759.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475759.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.567delG",
"hgvs_p": null,
"transcript": "ENST00000476283.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476283.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.432delG",
"hgvs_p": null,
"transcript": "ENST00000481287.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.101-631delC",
"hgvs_p": null,
"transcript": "ENST00000439539.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000439539.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.101-631delC",
"hgvs_p": null,
"transcript": "ENST00000605014.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000605014.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.100+930delC",
"hgvs_p": null,
"transcript": "ENST00000605105.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000605105.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "NM_001302821.2",
"protein_id": "NP_001289750.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302821.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "NM_001302822.2",
"protein_id": "NP_001289751.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302822.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "NM_001302824.2",
"protein_id": "NP_001289753.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302824.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "NM_001302825.2",
"protein_id": "NP_001289754.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302825.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
"transcript": "ENST00000910666.1",
"protein_id": "ENSP00000580725.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910666.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.255delG",
"hgvs_p": "p.Lys85fs",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Uncertain_significance",
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{
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Obesity",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Obesity",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}