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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: 2-203252041-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=203252041&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 203252041,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001371695.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Met122Val",
"transcript": "NM_177538.3",
"protein_id": "NP_803882.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 462,
"cds_start": 364,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356079.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177538.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Met122Val",
"transcript": "ENST00000356079.9",
"protein_id": "ENSP00000348380.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 462,
"cds_start": 364,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177538.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356079.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "n.364A>G",
"hgvs_p": null,
"transcript": "ENST00000449301.5",
"protein_id": "ENSP00000414831.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449301.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Met122Val",
"transcript": "ENST00000875109.1",
"protein_id": "ENSP00000545168.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 502,
"cds_start": 364,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875109.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Met122Val",
"transcript": "NM_001371695.1",
"protein_id": "NP_001358624.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 470,
"cds_start": 364,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371695.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Met122Val",
"transcript": "ENST00000429815.6",
"protein_id": "ENSP00000407860.2",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 470,
"cds_start": 364,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429815.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Met88Val",
"transcript": "ENST00000875108.1",
"protein_id": "ENSP00000545167.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 428,
"cds_start": 262,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875108.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001371696.1",
"protein_id": "NP_001358625.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 360,
"cds_start": 58,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371696.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001371697.1",
"protein_id": "NP_001358626.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 360,
"cds_start": 58,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371697.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001371698.1",
"protein_id": "NP_001358627.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 360,
"cds_start": 58,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371698.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001371700.1",
"protein_id": "NP_001358629.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 295,
"cds_start": 58,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371700.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"transcript": "NM_001371701.1",
"protein_id": "NP_001358630.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 295,
"cds_start": 58,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371701.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Met122Val",
"transcript": "ENST00000443941.1",
"protein_id": "ENSP00000411341.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 257,
"cds_start": 364,
"cds_end": null,
"cds_length": 776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443941.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Met122Val",
"transcript": "XM_047445157.1",
"protein_id": "XP_047301113.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 233,
"cds_start": 364,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.-242A>G",
"hgvs_p": null,
"transcript": "NM_001371702.1",
"protein_id": "NP_001358631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.-242A>G",
"hgvs_p": null,
"transcript": "NM_001371703.1",
"protein_id": "NP_001358632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.-242A>G",
"hgvs_p": null,
"transcript": "NM_001371705.1",
"protein_id": "NP_001358634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.-242A>G",
"hgvs_p": null,
"transcript": "NM_001371706.1",
"protein_id": "NP_001358635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.72+12907A>G",
"hgvs_p": null,
"transcript": "ENST00000956048.1",
"protein_id": "ENSP00000626107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.-70+38A>G",
"hgvs_p": null,
"transcript": "NM_001371699.1",
"protein_id": "NP_001358628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "c.-174+38A>G",
"hgvs_p": null,
"transcript": "NM_001371704.1",
"protein_id": "NP_001358633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP20A1",
"gene_hgnc_id": 20576,
"hgvs_c": "n.*62A>G",
"hgvs_p": null,
"transcript": "ENST00000428265.5",
"protein_id": "ENSP00000398046.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000428265.5"
},
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],
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"hom_count_reference_population": 2,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -8,
"acmg_classification": "Benign",
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{
"score": -8,
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"criteria": [
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"BS2"
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"verdict": "Benign",
"transcript": "NM_001371695.1",
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"effects": [
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],
"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
}