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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: 5-42699868-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=42699868&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 42699868,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001242399.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_000163.5",
"protein_id": "NP_000154.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "ENST00000230882.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000163.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000230882.9",
"protein_id": "ENSP00000230882.4",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "NM_000163.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230882.9"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.505G>T",
"hgvs_p": "p.Val169Phe",
"transcript": "NM_001242399.2",
"protein_id": "NP_001229328.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 645,
"cds_start": 505,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242399.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.505G>T",
"hgvs_p": "p.Val169Phe",
"transcript": "ENST00000620156.4",
"protein_id": "ENSP00000483403.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 645,
"cds_start": 505,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620156.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_001242400.2",
"protein_id": "NP_001229329.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242400.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_001242401.4",
"protein_id": "NP_001229330.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242401.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_001242402.2",
"protein_id": "NP_001229331.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242402.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_001242403.3",
"protein_id": "NP_001229332.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242403.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_001242404.2",
"protein_id": "NP_001229333.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242404.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_001242405.2",
"protein_id": "NP_001229334.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242405.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "NM_001242406.2",
"protein_id": "NP_001229335.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242406.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000537449.5",
"protein_id": "ENSP00000442206.2",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537449.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000612382.4",
"protein_id": "ENSP00000478332.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612382.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000612626.4",
"protein_id": "ENSP00000479846.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612626.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000615111.4",
"protein_id": "ENSP00000478291.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615111.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000618088.4",
"protein_id": "ENSP00000482373.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618088.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000887685.1",
"protein_id": "ENSP00000557744.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887685.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000887687.1",
"protein_id": "ENSP00000557746.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887687.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000887688.1",
"protein_id": "ENSP00000557747.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887688.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000887689.1",
"protein_id": "ENSP00000557748.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887689.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHR",
"gene_hgnc_id": 4263,
"hgvs_c": "c.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000887690.1",
"protein_id": "ENSP00000557749.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887690.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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.484G>T",
"hgvs_p": "p.Val162Phe",
"transcript": "ENST00000887691.1",
"protein_id": "ENSP00000557750.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 638,
"cds_start": 484,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.505G>T",
"hgvs_p": "p.Val169Phe"
}
],
"clinvar_disease": " 1, familial,Hypercholesterolemia,Laron-type isolated somatotropin defect,Short stature due to partial GHR deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|Short stature due to partial GHR deficiency;Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}