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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: 6-31947158-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31947158&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31947158,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001710.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "NM_001710.6",
"protein_id": "NP_001701.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 764,
"cds_start": 450,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "ENST00000425368.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001710.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000425368.7",
"protein_id": "ENSP00000416561.2",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 764,
"cds_start": 450,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": "NM_001710.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425368.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.1956A>G",
"hgvs_p": "p.Arg652Arg",
"transcript": "ENST00000456570.5",
"protein_id": "ENSP00000410815.1",
"transcript_support_level": 2,
"aa_start": 652,
"aa_end": null,
"aa_length": 1266,
"cds_start": 1956,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456570.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000244255",
"gene_hgnc_id": null,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Arg501Arg",
"transcript": "ENST00000477310.1",
"protein_id": "ENSP00000418996.1",
"transcript_support_level": 5,
"aa_start": 501,
"aa_end": null,
"aa_length": 1115,
"cds_start": 1503,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477310.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885733.1",
"protein_id": "ENSP00000555792.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 813,
"cds_start": 450,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885733.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.534A>G",
"hgvs_p": "p.Arg178Arg",
"transcript": "ENST00000885731.1",
"protein_id": "ENSP00000555790.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 792,
"cds_start": 534,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885731.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885715.1",
"protein_id": "ENSP00000555774.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 789,
"cds_start": 450,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885715.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.510A>G",
"hgvs_p": "p.Arg170Arg",
"transcript": "ENST00000885713.1",
"protein_id": "ENSP00000555772.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 784,
"cds_start": 510,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885713.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885728.1",
"protein_id": "ENSP00000555787.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 783,
"cds_start": 450,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885728.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885716.1",
"protein_id": "ENSP00000555775.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 777,
"cds_start": 450,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885716.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885719.1",
"protein_id": "ENSP00000555778.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 775,
"cds_start": 450,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885719.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885717.1",
"protein_id": "ENSP00000555776.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 773,
"cds_start": 450,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885717.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885730.1",
"protein_id": "ENSP00000555789.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 772,
"cds_start": 450,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885730.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885712.1",
"protein_id": "ENSP00000555771.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 770,
"cds_start": 450,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885712.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885737.1",
"protein_id": "ENSP00000555796.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 769,
"cds_start": 450,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885737.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885706.1",
"protein_id": "ENSP00000555765.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 764,
"cds_start": 450,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885706.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885720.1",
"protein_id": "ENSP00000555779.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 763,
"cds_start": 450,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885720.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885721.1",
"protein_id": "ENSP00000555780.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 762,
"cds_start": 450,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885721.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885729.1",
"protein_id": "ENSP00000555788.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 758,
"cds_start": 450,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885729.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885725.1",
"protein_id": "ENSP00000555784.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 755,
"cds_start": 450,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885725.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885714.1",
"protein_id": "ENSP00000555773.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 753,
"cds_start": 450,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885714.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFB",
"gene_hgnc_id": 1037,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000885736.1",
"protein_id": "ENSP00000555795.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 753,
"cds_start": 450,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.295,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001710.6",
"gene_symbol": "CFB",
"hgnc_id": 1037,
"effects": [
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],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Arg150Arg"
},
{
"score": -21,
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"criteria": [
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"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000456570.5",
"gene_symbol": "ENSG00000244255",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.1956A>G",
"hgvs_p": "p.Arg652Arg"
}
],
"clinvar_disease": "Atypical hemolytic-uremic syndrome with B factor anomaly,Complement component 2 deficiency,Complement factor b deficiency,Macular degeneration,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "Atypical hemolytic-uremic syndrome with B factor anomaly|Complement component 2 deficiency|Macular degeneration|not provided|Complement factor b deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}