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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: 5-42688937-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=42688937&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 42688937,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000230882.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_000163.5",
"protein_id": "NP_000154.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "ENST00000230882.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000230882.9",
"protein_id": "ENSP00000230882.4",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "NM_000163.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Glu69Lys",
"transcript": "NM_001242399.2",
"protein_id": "NP_001229328.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 645,
"cds_start": 205,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Glu69Lys",
"transcript": "ENST00000620156.4",
"protein_id": "ENSP00000483403.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 645,
"cds_start": 205,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242400.2",
"protein_id": "NP_001229329.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242401.4",
"protein_id": "NP_001229330.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242402.2",
"protein_id": "NP_001229331.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242403.3",
"protein_id": "NP_001229332.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242404.2",
"protein_id": "NP_001229333.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242405.2",
"protein_id": "NP_001229334.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242406.2",
"protein_id": "NP_001229335.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000537449.5",
"protein_id": "ENSP00000442206.2",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000612382.4",
"protein_id": "ENSP00000478332.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000612626.4",
"protein_id": "ENSP00000479846.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000615111.4",
"protein_id": "ENSP00000478291.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000618088.4",
"protein_id": "ENSP00000482373.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 638,
"cds_start": 184,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Glu40Lys",
"transcript": "NM_001242460.2",
"protein_id": "NP_001229389.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 616,
"cds_start": 118,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Glu40Lys",
"transcript": "ENST00000357703.6",
"protein_id": "ENSP00000350335.3",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 616,
"cds_start": 118,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "NM_001242462.1",
"protein_id": "NP_001229391.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 295,
"cds_start": 184,
"cds_end": null,
"cds_length": 888,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000622294.2",
"protein_id": "ENSP00000483926.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 295,
"cds_start": 184,
"cds_end": null,
"cds_length": 888,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "n.137-5980G>A",
"hgvs_p": null,
"transcript": "ENST00000511135.5",
"protein_id": "ENSP00000422333.1",
"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": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"dbsnp": "rs121909361",
"frequency_reference_population": 0.000007437442,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000684316,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.870323657989502,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.895,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.402,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000230882.9",
"gene_symbol": "GHR",
"hgnc_id": 4263,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys"
}
],
"clinvar_disease": "Growth hormone insensitivity syndrome,Short stature due to partial GHR deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Short stature due to partial GHR deficiency|Growth hormone insensitivity syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}