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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: 5-42688934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=42688934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "GHR",
"hgnc_id": 4263,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68*",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_001242399.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 1, familial,Hypercholesterolemia,Laron-type isolated somatotropin defect,Short stature due to partial GHR deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000163.5",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000230882.9",
"protein_coding": true,
"protein_id": "NP_000154.1",
"strand": true,
"transcript": "NM_000163.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000230882.9",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000163.5",
"protein_coding": true,
"protein_id": "ENSP00000230882.4",
"strand": true,
"transcript": "ENST00000230882.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1938,
"cds_start": 202,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242399.2",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229328.1",
"strand": true,
"transcript": "NM_001242399.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1938,
"cds_start": 202,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000620156.4",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483403.1",
"strand": true,
"transcript": "ENST00000620156.4",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242400.2",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229329.1",
"strand": true,
"transcript": "NM_001242400.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242401.4",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229330.1",
"strand": true,
"transcript": "NM_001242401.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242402.2",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229331.1",
"strand": true,
"transcript": "NM_001242402.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4462,
"cdna_start": 272,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242403.3",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229332.1",
"strand": true,
"transcript": "NM_001242403.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242404.2",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229333.1",
"strand": true,
"transcript": "NM_001242404.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4419,
"cdna_start": 229,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001242405.2",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229334.1",
"strand": true,
"transcript": "NM_001242405.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001242406.2",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229335.1",
"strand": true,
"transcript": "NM_001242406.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4419,
"cdna_start": 229,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000537449.5",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442206.2",
"strand": true,
"transcript": "ENST00000537449.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000612382.4",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478332.1",
"strand": true,
"transcript": "ENST00000612382.4",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000612626.4",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479846.1",
"strand": true,
"transcript": "ENST00000612626.4",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000615111.4",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478291.1",
"strand": true,
"transcript": "ENST00000615111.4",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000618088.4",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482373.1",
"strand": true,
"transcript": "ENST00000618088.4",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887685.1",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557744.1",
"strand": true,
"transcript": "ENST00000887685.1",
"transcript_support_level": null
},
{
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"aa_length": 638,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": 486,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000887687.1",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557746.1",
"strand": true,
"transcript": "ENST00000887687.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000887688.1",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557747.1",
"strand": true,
"transcript": "ENST00000887688.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4742,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000887689.1",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557748.1",
"strand": true,
"transcript": "ENST00000887689.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 682,
"cds_end": null,
"cds_length": 1917,
"cds_start": 181,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000887690.1",
"gene_hgnc_id": 4263,
"gene_symbol": "GHR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557749.1",
"strand": true,
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