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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: 3-123296110-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123296110&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123296110,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000462833.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3037C>T",
"hgvs_p": "p.Arg1013Cys",
"transcript": "NM_183357.3",
"protein_id": "NP_899200.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3582,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": "ENST00000462833.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3037C>T",
"hgvs_p": "p.Arg1013Cys",
"transcript": "ENST00000462833.6",
"protein_id": "ENSP00000419361.1",
"transcript_support_level": 1,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3582,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": "NM_183357.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3199C>T",
"hgvs_p": "p.Arg1067Cys",
"transcript": "ENST00000850916.1",
"protein_id": "ENSP00000520999.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3582,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3112C>T",
"hgvs_p": "p.Arg1038Cys",
"transcript": "NM_001378259.1",
"protein_id": "NP_001365188.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3657,
"cdna_end": null,
"cdna_length": 6718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.3112C>T",
"hgvs_p": "p.Arg1038Cys",
"transcript": "ENST00000699718.1",
"protein_id": "ENSP00000514543.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2011C>T",
"hgvs_p": "p.Arg671Cys",
"transcript": "ENST00000491190.5",
"protein_id": "ENSP00000418537.1",
"transcript_support_level": 2,
"aa_start": 671,
"aa_end": null,
"aa_length": 919,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2002C>T",
"hgvs_p": "p.Arg668Cys",
"transcript": "ENST00000470367.2",
"protein_id": "ENSP00000514541.1",
"transcript_support_level": 4,
"aa_start": 668,
"aa_end": null,
"aa_length": 916,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663Cys",
"transcript": "NM_001199642.1",
"protein_id": "NP_001186571.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 911,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1987C>T",
"hgvs_p": "p.Arg663Cys",
"transcript": "ENST00000309879.9",
"protein_id": "ENSP00000308685.5",
"transcript_support_level": 2,
"aa_start": 663,
"aa_end": null,
"aa_length": 911,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000466617.6",
"protein_id": "ENSP00000420082.2",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 820,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000483566.2",
"protein_id": "ENSP00000420252.2",
"transcript_support_level": 4,
"aa_start": 572,
"aa_end": null,
"aa_length": 820,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000699714.1",
"protein_id": "ENSP00000514539.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 820,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000699715.1",
"protein_id": "ENSP00000514540.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 820,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000699716.1",
"protein_id": "ENSP00000514542.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 820,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Cys",
"transcript": "XM_011512359.3",
"protein_id": "XP_011510661.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 953,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2062C>T",
"hgvs_p": "p.Arg688Cys",
"transcript": "XM_005247078.1",
"protein_id": "XP_005247135.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 936,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2038C>T",
"hgvs_p": "p.Arg680Cys",
"transcript": "XM_047447359.1",
"protein_id": "XP_047303315.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 928,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.Arg675Cys",
"transcript": "XM_011512360.3",
"protein_id": "XP_011510662.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 923,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Arg672Cys",
"transcript": "XM_017005638.1",
"protein_id": "XP_016861127.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 920,
"cds_start": 2014,
"cds_end": null,
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"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Arg672Cys",
"transcript": "XM_017005639.1",
"protein_id": "XP_016861128.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 920,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.2011C>T",
"hgvs_p": "p.Arg671Cys",
"transcript": "XM_006713483.2",
"protein_id": "XP_006713546.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 919,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1948C>T",
"hgvs_p": "p.Arg650Cys",
"transcript": "XM_047447360.1",
"protein_id": "XP_047303316.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 898,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.1939C>T",
"hgvs_p": "p.Arg647Cys",
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}
],
"gene_symbol": "ADCY5",
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"dbsnp": "rs1365372289",
"frequency_reference_population": 6.84105e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84105e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9339538812637329,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.844,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9963,
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"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.142,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000462833.6",
"gene_symbol": "ADCY5",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3037C>T",
"hgvs_p": "p.Arg1013Cys"
}
],
"clinvar_disease": " autosomal recessive,Dyskinesia with orofacial involvement,Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases|Dyskinesia with orofacial involvement, autosomal recessive",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}