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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: 16-56887937-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56887937&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56887937,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000339.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Gly731Trp",
"transcript": "NM_001126108.2",
"protein_id": "NP_001119580.2",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2191,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000563236.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126108.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Gly731Trp",
"transcript": "ENST00000563236.6",
"protein_id": "ENSP00000456149.2",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2191,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001126108.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563236.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Gly731Trp",
"transcript": "ENST00000438926.6",
"protein_id": "ENSP00000402152.2",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2191,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438926.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "ENST00000566786.5",
"protein_id": "ENSP00000457552.1",
"transcript_support_level": 1,
"aa_start": 730,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566786.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "ENST00000898227.1",
"protein_id": "ENSP00000568286.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898227.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2278G>T",
"hgvs_p": "p.Gly760Trp",
"transcript": "ENST00000898208.1",
"protein_id": "ENSP00000568267.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2278,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898208.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Gly731Trp",
"transcript": "ENST00000898207.1",
"protein_id": "ENSP00000568266.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2191,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898207.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "ENST00000898218.1",
"protein_id": "ENSP00000568277.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898218.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Gly731Trp",
"transcript": "NM_000339.3",
"protein_id": "NP_000330.3",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2191,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000339.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "NM_001126107.2",
"protein_id": "NP_001119579.2",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126107.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Gly731Trp",
"transcript": "ENST00000898221.1",
"protein_id": "ENSP00000568280.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2191,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898221.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "NM_001410896.1",
"protein_id": "NP_001397825.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410896.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "ENST00000262502.5",
"protein_id": "ENSP00000262502.5",
"transcript_support_level": 5,
"aa_start": 730,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262502.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "ENST00000898220.1",
"protein_id": "ENSP00000568279.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2188,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898220.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2137G>T",
"hgvs_p": "p.Gly713Trp",
"transcript": "ENST00000898226.1",
"protein_id": "ENSP00000568285.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898226.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2092G>T",
"hgvs_p": "p.Gly698Trp",
"transcript": "ENST00000898219.1",
"protein_id": "ENSP00000568278.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 997,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898219.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Gly697Trp",
"transcript": "ENST00000898215.1",
"protein_id": "ENSP00000568274.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 996,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898215.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2188G>T",
"hgvs_p": "p.Gly730Trp",
"transcript": "ENST00000898213.1",
"protein_id": "ENSP00000568272.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 995,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898213.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2095G>T",
"hgvs_p": "p.Gly699Trp",
"transcript": "ENST00000898214.1",
"protein_id": "ENSP00000568273.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 989,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898214.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2092G>T",
"hgvs_p": "p.Gly698Trp",
"transcript": "ENST00000898217.1",
"protein_id": "ENSP00000568276.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 988,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898217.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2089G>T",
"hgvs_p": "p.Gly697Trp",
"transcript": "ENST00000898210.1",
"protein_id": "ENSP00000568269.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 987,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898210.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2086G>T",
"hgvs_p": "p.Gly696Trp",
"transcript": "ENST00000898224.1",
"protein_id": "ENSP00000568283.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
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{
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{
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"biotype": "protein_coding",
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],
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"dbsnp": "rs752101663",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9752112627029419,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.889,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9432,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.756,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_000339.3",
"gene_symbol": "SLC12A3",
"hgnc_id": 10912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2191G>T",
"hgvs_p": "p.Gly731Trp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}