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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: 3-98516669-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=98516669&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 98516669,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001040182.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "NM_001040181.2",
"protein_id": "NP_001035271.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341181.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040181.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000341181.11",
"protein_id": "ENSP00000340247.6",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040181.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341181.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.821G>C",
"hgvs_p": "p.Arg274Pro",
"transcript": "ENST00000394181.6",
"protein_id": "ENSP00000377735.3",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 276,
"cds_start": 821,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394181.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000394180.6",
"protein_id": "ENSP00000377734.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394180.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000503004.5",
"protein_id": "ENSP00000421226.1",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503004.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.821G>C",
"hgvs_p": "p.Arg274Pro",
"transcript": "NM_001040182.2",
"protein_id": "NP_001035272.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 276,
"cds_start": 821,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040182.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "NM_001040183.2",
"protein_id": "NP_001035273.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040183.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "NM_001040199.2",
"protein_id": "NP_001035289.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040199.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "NM_019895.3",
"protein_id": "NP_063948.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019895.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000394185.6",
"protein_id": "ENSP00000377739.2",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394185.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000510545.5",
"protein_id": "ENSP00000423590.1",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510545.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000513287.5",
"protein_id": "ENSP00000426869.1",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513287.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000856827.1",
"protein_id": "ENSP00000526886.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856827.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000856828.1",
"protein_id": "ENSP00000526887.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856828.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000856829.1",
"protein_id": "ENSP00000526888.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856829.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000856831.1",
"protein_id": "ENSP00000526890.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856831.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000856834.1",
"protein_id": "ENSP00000526893.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856834.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000856835.1",
"protein_id": "ENSP00000526894.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856835.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000931201.1",
"protein_id": "ENSP00000601260.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931201.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000931203.1",
"protein_id": "ENSP00000601262.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931203.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000967078.1",
"protein_id": "ENSP00000637137.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967078.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDND1",
"gene_hgnc_id": 1322,
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Arg251Pro",
"transcript": "ENST00000967079.1",
"protein_id": "ENSP00000637138.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 253,
"cds_start": 752,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000335221,
"gnomad_genomes_af": 0.0000131368,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3726334571838379,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.627,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001040182.2",
"gene_symbol": "CLDND1",
"hgnc_id": 1322,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.821G>C",
"hgvs_p": "p.Arg274Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}