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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: 4-109749594-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=109749594&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 109749594,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001375278.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Trp",
"transcript": "NM_000204.5",
"protein_id": "NP_000195.3",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 583,
"cds_start": 949,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394634.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000204.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Trp",
"transcript": "ENST00000394634.7",
"protein_id": "ENSP00000378130.2",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 583,
"cds_start": 949,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000204.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394634.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285330",
"gene_hgnc_id": null,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Trp",
"transcript": "ENST00000645635.1",
"protein_id": "ENSP00000493607.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 631,
"cds_start": 949,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645635.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Trp",
"transcript": "ENST00000963332.1",
"protein_id": "ENSP00000633391.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 613,
"cds_start": 949,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963332.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Trp",
"transcript": "NM_001375278.1",
"protein_id": "NP_001362207.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 601,
"cds_start": 973,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375278.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "NM_001440985.1",
"protein_id": "NP_001427914.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 600,
"cds_start": 970,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440985.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333Trp",
"transcript": "ENST00000882821.1",
"protein_id": "ENSP00000552880.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 599,
"cds_start": 997,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882821.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Trp",
"transcript": "NM_001375279.1",
"protein_id": "NP_001362208.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 593,
"cds_start": 949,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375279.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Trp",
"transcript": "NM_001318057.2",
"protein_id": "NP_001304986.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 591,
"cds_start": 973,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318057.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325Trp",
"transcript": "ENST00000394635.8",
"protein_id": "ENSP00000378131.3",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 591,
"cds_start": 973,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394635.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "NM_001440986.1",
"protein_id": "NP_001427915.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 590,
"cds_start": 970,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440986.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "ENST00000882815.1",
"protein_id": "ENSP00000552874.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 590,
"cds_start": 970,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882815.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000963333.1",
"protein_id": "ENSP00000633392.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 589,
"cds_start": 967,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963333.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322Trp",
"transcript": "ENST00000882818.1",
"protein_id": "ENSP00000552877.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 588,
"cds_start": 964,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882818.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "NM_001375280.1",
"protein_id": "NP_001362209.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 586,
"cds_start": 928,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375280.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318Trp",
"transcript": "ENST00000882820.1",
"protein_id": "ENSP00000552879.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 584,
"cds_start": 952,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882820.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Trp",
"transcript": "ENST00000963330.1",
"protein_id": "ENSP00000633389.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 582,
"cds_start": 946,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963330.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Trp",
"transcript": "ENST00000963331.1",
"protein_id": "ENSP00000633390.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 580,
"cds_start": 940,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963331.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "NM_001331035.2",
"protein_id": "NP_001317964.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 576,
"cds_start": 928,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331035.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Trp",
"transcript": "ENST00000512148.5",
"protein_id": "ENSP00000427438.1",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 576,
"cds_start": 928,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512148.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Trp",
"transcript": "ENST00000882817.1",
"protein_id": "ENSP00000552876.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 575,
"cds_start": 925,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882817.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFI",
"gene_hgnc_id": 5394,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Arg307Trp",
"transcript": "ENST00000882819.1",
"protein_id": "ENSP00000552878.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 573,
"cds_start": 919,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"verdict": "Likely_benign",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Atypical hemolytic-uremic syndrome with I factor anomaly|not provided|Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}