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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: 16-16163159-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16163159&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16163159,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001171.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "NM_001171.6",
"protein_id": "NP_001162.5",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": "ENST00000205557.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "ENST00000205557.12",
"protein_id": "ENSP00000205557.7",
"transcript_support_level": 1,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": "NM_001171.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205557.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3436C>T",
"hgvs_p": "p.Arg1146Cys",
"transcript": "ENST00000909083.1",
"protein_id": "ENSP00000579142.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1535,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909083.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3433C>T",
"hgvs_p": "p.Arg1145Cys",
"transcript": "ENST00000909090.1",
"protein_id": "ENSP00000579149.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3433,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909090.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3430C>T",
"hgvs_p": "p.Arg1144Cys",
"transcript": "ENST00000909087.1",
"protein_id": "ENSP00000579146.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3430,
"cds_end": null,
"cds_length": 4602,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909087.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3376C>T",
"hgvs_p": "p.Arg1126Cys",
"transcript": "ENST00000909096.1",
"protein_id": "ENSP00000579155.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3376,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 3409,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909096.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "ENST00000909085.1",
"protein_id": "ENSP00000579144.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 3402,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909085.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3352C>T",
"hgvs_p": "p.Arg1118Cys",
"transcript": "ENST00000909097.1",
"protein_id": "ENSP00000579156.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1507,
"cds_start": 3352,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 3395,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909097.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3307C>T",
"hgvs_p": "p.Arg1103Cys",
"transcript": "NM_001440309.1",
"protein_id": "NP_001427238.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3307,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440309.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3307C>T",
"hgvs_p": "p.Arg1103Cys",
"transcript": "ENST00000909086.1",
"protein_id": "ENSP00000579145.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3307,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 5106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909086.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3301C>T",
"hgvs_p": "p.Arg1101Cys",
"transcript": "ENST00000909094.1",
"protein_id": "ENSP00000579153.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1490,
"cds_start": 3301,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 3334,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909094.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3289C>T",
"hgvs_p": "p.Arg1097Cys",
"transcript": "ENST00000909095.1",
"protein_id": "ENSP00000579154.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3289,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909095.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3265C>T",
"hgvs_p": "p.Arg1089Cys",
"transcript": "ENST00000909091.1",
"protein_id": "ENSP00000579150.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1478,
"cds_start": 3265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909091.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3259C>T",
"hgvs_p": "p.Arg1087Cys",
"transcript": "ENST00000909089.1",
"protein_id": "ENSP00000579148.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1476,
"cds_start": 3259,
"cds_end": null,
"cds_length": 4431,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 5046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909089.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "ENST00000909092.1",
"protein_id": "ENSP00000579151.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909092.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys",
"transcript": "ENST00000946282.1",
"protein_id": "ENSP00000616341.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 3543,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946282.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3247C>T",
"hgvs_p": "p.Arg1083Cys",
"transcript": "ENST00000946285.1",
"protein_id": "ENSP00000616344.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3247,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946285.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3214C>T",
"hgvs_p": "p.Arg1072Cys",
"transcript": "ENST00000909088.1",
"protein_id": "ENSP00000579147.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3214,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909088.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Arg1070Cys",
"transcript": "ENST00000909093.1",
"protein_id": "ENSP00000579152.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1459,
"cds_start": 3208,
"cds_end": null,
"cds_length": 4380,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 4983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909093.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3196C>T",
"hgvs_p": "p.Arg1066Cys",
"transcript": "ENST00000946284.1",
"protein_id": "ENSP00000616343.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3196,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3222,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946284.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3172C>T",
"hgvs_p": "p.Arg1058Cys",
"transcript": "NM_001440310.1",
"protein_id": "NP_001427239.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3172,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3232,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440310.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC6",
"gene_hgnc_id": 57,
"hgvs_c": "c.3172C>T",
"hgvs_p": "p.Arg1058Cys",
"transcript": "ENST00000909084.1",
"protein_id": "ENSP00000579143.1",
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],
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"dbsnp": "rs63749794",
"frequency_reference_population": 0.000035942823,
"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
"gnomad_exomes_af": 0.0000348989,
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"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9433104991912842,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.914,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1786,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.367,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001171.6",
"gene_symbol": "ABCC6",
"hgnc_id": 57,
"effects": [
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],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.3340C>T",
"hgvs_p": "p.Arg1114Cys"
}
],
"clinvar_disease": " 2, forme fruste, generalized, of infancy,Arterial calcification,Autosomal recessive inherited pseudoxanthoma elasticum,Pseudoxanthoma elasticum,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:4",
"phenotype_combined": "Autosomal recessive inherited pseudoxanthoma elasticum|not provided|Autosomal recessive inherited pseudoxanthoma elasticum;Pseudoxanthoma elasticum, forme fruste;Arterial calcification, generalized, of infancy, 2",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}