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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: 19-12763580-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12763580&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12763580,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001400041.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1958G>C",
"hgvs_p": "p.Arg653Pro",
"transcript": "NM_013312.3",
"protein_id": "NP_037444.2",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 719,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397668.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013312.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1958G>C",
"hgvs_p": "p.Arg653Pro",
"transcript": "ENST00000397668.8",
"protein_id": "ENSP00000380785.2",
"transcript_support_level": 1,
"aa_start": 653,
"aa_end": null,
"aa_length": 719,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013312.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397668.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1952G>C",
"hgvs_p": "p.Arg651Pro",
"transcript": "ENST00000264827.9",
"protein_id": "ENSP00000264827.4",
"transcript_support_level": 1,
"aa_start": 651,
"aa_end": null,
"aa_length": 717,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264827.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2246G>C",
"hgvs_p": "p.Arg749Pro",
"transcript": "ENST00000894580.1",
"protein_id": "ENSP00000564639.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 815,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894580.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2138G>C",
"hgvs_p": "p.Arg713Pro",
"transcript": "ENST00000894575.1",
"protein_id": "ENSP00000564634.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 779,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894575.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2135G>C",
"hgvs_p": "p.Arg712Pro",
"transcript": "ENST00000894576.1",
"protein_id": "ENSP00000564635.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 778,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894576.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.2060G>C",
"hgvs_p": "p.Arg687Pro",
"transcript": "NM_001400041.1",
"protein_id": "NP_001386970.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 753,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400041.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1970G>C",
"hgvs_p": "p.Arg657Pro",
"transcript": "ENST00000914424.1",
"protein_id": "ENSP00000584483.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 723,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914424.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1952G>C",
"hgvs_p": "p.Arg651Pro",
"transcript": "NM_001100176.2",
"protein_id": "NP_001093646.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 717,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100176.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1949G>C",
"hgvs_p": "p.Arg650Pro",
"transcript": "ENST00000894574.1",
"protein_id": "ENSP00000564633.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 716,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894574.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1946G>C",
"hgvs_p": "p.Arg649Pro",
"transcript": "ENST00000894579.1",
"protein_id": "ENSP00000564638.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 715,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894579.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1946G>C",
"hgvs_p": "p.Arg649Pro",
"transcript": "ENST00000961673.1",
"protein_id": "ENSP00000631732.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 715,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961673.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1943G>C",
"hgvs_p": "p.Arg648Pro",
"transcript": "ENST00000961672.1",
"protein_id": "ENSP00000631731.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 714,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961672.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1952G>C",
"hgvs_p": "p.Arg651Pro",
"transcript": "ENST00000894578.1",
"protein_id": "ENSP00000564637.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 712,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894578.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1949G>C",
"hgvs_p": "p.Arg650Pro",
"transcript": "ENST00000914426.1",
"protein_id": "ENSP00000584485.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 711,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914426.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1934G>C",
"hgvs_p": "p.Arg645Pro",
"transcript": "ENST00000961674.1",
"protein_id": "ENSP00000631733.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 711,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961674.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1892G>C",
"hgvs_p": "p.Arg631Pro",
"transcript": "ENST00000961675.1",
"protein_id": "ENSP00000631734.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 697,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961675.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1952G>C",
"hgvs_p": "p.Arg651Pro",
"transcript": "ENST00000894581.1",
"protein_id": "ENSP00000564640.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 694,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894581.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1871G>C",
"hgvs_p": "p.Arg624Pro",
"transcript": "ENST00000914425.1",
"protein_id": "ENSP00000584484.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 690,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914425.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1841G>C",
"hgvs_p": "p.Arg614Pro",
"transcript": "ENST00000894577.1",
"protein_id": "ENSP00000564636.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 680,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894577.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Arg578Pro",
"transcript": "NM_001400043.1",
"protein_id": "NP_001386972.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 644,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400043.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK2",
"gene_hgnc_id": 19885,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Arg578Pro",
"transcript": "NM_001400044.1",
"protein_id": "NP_001386973.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 644,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}