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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: 5-42699896-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=42699896&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 42699896,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000230882.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_000163.5",
"protein_id": "NP_000154.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "ENST00000230882.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "ENST00000230882.9",
"protein_id": "ENSP00000230882.4",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "NM_000163.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Ile178Thr",
"transcript": "NM_001242399.2",
"protein_id": "NP_001229328.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 645,
"cds_start": 533,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Ile178Thr",
"transcript": "ENST00000620156.4",
"protein_id": "ENSP00000483403.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 645,
"cds_start": 533,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242400.2",
"protein_id": "NP_001229329.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242401.4",
"protein_id": "NP_001229330.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242402.2",
"protein_id": "NP_001229331.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242403.3",
"protein_id": "NP_001229332.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242404.2",
"protein_id": "NP_001229333.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242405.2",
"protein_id": "NP_001229334.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242406.2",
"protein_id": "NP_001229335.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "ENST00000537449.5",
"protein_id": "ENSP00000442206.2",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "ENST00000612382.4",
"protein_id": "ENSP00000478332.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "ENST00000612626.4",
"protein_id": "ENSP00000479846.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
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"cds_start": 512,
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"cdna_start": 665,
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"cdna_length": 4524,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "ENST00000615111.4",
"protein_id": "ENSP00000478291.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "ENST00000618088.4",
"protein_id": "ENSP00000482373.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 638,
"cds_start": 512,
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"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Ile149Thr",
"transcript": "NM_001242460.2",
"protein_id": "NP_001229389.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 616,
"cds_start": 446,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Ile149Thr",
"transcript": "ENST00000357703.6",
"protein_id": "ENSP00000350335.3",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 616,
"cds_start": 446,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "NM_001242462.1",
"protein_id": "NP_001229391.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 295,
"cds_start": 512,
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"cdna_start": 523,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr",
"transcript": "ENST00000622294.2",
"protein_id": "ENSP00000483926.1",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 295,
"cds_start": 512,
"cds_end": null,
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"cdna_start": 523,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "n.*124T>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "n.*124T>C",
"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": "rs121909367",
"frequency_reference_population": 0.00000344046,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000344046,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9738239049911499,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.65,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9204,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.419,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000230882.9",
"gene_symbol": "GHR",
"hgnc_id": 4263,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Ile171Thr"
}
],
"clinvar_disease": "Laron-type isolated somatotropin defect,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Laron-type isolated somatotropin defect|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}