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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: 1-48399425-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=48399425&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPATA6",
"hgnc_id": 18309,
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_019073.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 138,
"alphamissense_prediction": null,
"alphamissense_score": 0.8708,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2249540388584137,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 488,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1467,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_019073.4",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371847.8",
"protein_coding": true,
"protein_id": "NP_061946.1",
"strand": false,
"transcript": "NM_019073.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 488,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1467,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371847.8",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019073.4",
"protein_coding": true,
"protein_id": "ENSP00000360913.3",
"strand": false,
"transcript": "ENST00000371847.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1419,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371843.7",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360909.3",
"strand": false,
"transcript": "ENST00000371843.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1425,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001286239.2",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273168.1",
"strand": false,
"transcript": "NM_001286239.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4964,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1425,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396199.7",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379502.4",
"strand": false,
"transcript": "ENST00000396199.7",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1419,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001286238.2",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273167.1",
"strand": false,
"transcript": "NM_001286238.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1386,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872886.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542945.1",
"strand": false,
"transcript": "ENST00000872886.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1377,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872888.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542947.1",
"strand": false,
"transcript": "ENST00000872888.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4829,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1338,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872885.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542944.1",
"strand": false,
"transcript": "ENST00000872885.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1251,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930128.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600187.1",
"strand": false,
"transcript": "ENST00000930128.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1182,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872887.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542946.1",
"strand": false,
"transcript": "ENST00000872887.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 607,
"cds_end": null,
"cds_length": 966,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930129.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600188.1",
"strand": false,
"transcript": "ENST00000930129.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 248,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 818,
"cdna_start": 298,
"cds_end": null,
"cds_length": 749,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000371841.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360907.1",
"strand": false,
"transcript": "ENST00000371841.1",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1311,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006710699.4",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710762.1",
"strand": false,
"transcript": "XM_006710699.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 427,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1284,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047422900.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278856.1",
"strand": false,
"transcript": "XM_047422900.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1263,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047422901.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278857.1",
"strand": false,
"transcript": "XM_047422901.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4787,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1251,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017001510.2",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856999.1",
"strand": false,
"transcript": "XM_017001510.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4911,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1233,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017001511.3",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857000.1",
"strand": false,
"transcript": "XM_017001511.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 400,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1203,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422902.1",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278858.1",
"strand": false,
"transcript": "XM_047422902.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1182,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011541606.3",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.706C>T",
"hgvs_p": "p.Arg236Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539908.1",
"strand": false,
"transcript": "XM_011541606.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 472,
"cds_end": null,
"cds_length": 1155,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011541607.3",
"gene_hgnc_id": 18309,
"gene_symbol": "SPATA6",
"hgvs_c": "c.394C>T",
"hgvs_p": "p.Arg132Trp",
"intron_rank": null,
"intron_rank_end": null,
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