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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: 20-3673835-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3673835&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3673835,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356518.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Met",
"transcript": "NM_025220.5",
"protein_id": "NP_079496.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 813,
"cds_start": 815,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000356518.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Met",
"transcript": "ENST00000356518.7",
"protein_id": "ENSP00000348912.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 813,
"cds_start": 815,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_025220.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Met",
"transcript": "ENST00000379861.8",
"protein_id": "ENSP00000369190.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 812,
"cds_start": 815,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Met",
"transcript": "NM_001282447.3",
"protein_id": "NP_001269376.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 812,
"cds_start": 815,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Met",
"transcript": "NM_153202.4",
"protein_id": "NP_694882.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 787,
"cds_start": 815,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Met",
"transcript": "ENST00000350009.6",
"protein_id": "ENSP00000322550.5",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 787,
"cds_start": 815,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_005260843.2",
"protein_id": "XP_005260900.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 826,
"cds_start": 854,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Thr284Met",
"transcript": "XM_011529366.2",
"protein_id": "XP_011527668.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 825,
"cds_start": 851,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_047440514.1",
"protein_id": "XP_047296470.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 825,
"cds_start": 854,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_006723640.2",
"protein_id": "XP_006723703.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 823,
"cds_start": 854,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Thr271Met",
"transcript": "XM_011529367.2",
"protein_id": "XP_011527669.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 812,
"cds_start": 812,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_047440515.1",
"protein_id": "XP_047296471.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 800,
"cds_start": 854,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_047440516.1",
"protein_id": "XP_047296472.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 799,
"cds_start": 854,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_011529370.2",
"protein_id": "XP_011527672.1",
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"aa_end": null,
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"cds_start": 854,
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"cdna_start": 860,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_047440517.1",
"protein_id": "XP_047296473.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 635,
"cds_start": 854,
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"cds_length": 1908,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_011529371.3",
"protein_id": "XP_011527673.1",
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"aa_start": 285,
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"cds_start": 854,
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"cdna_start": 860,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_017028080.3",
"protein_id": "XP_016883569.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 560,
"cds_start": 854,
"cds_end": null,
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"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Met",
"transcript": "XM_017028081.3",
"protein_id": "XP_016883570.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 547,
"cds_start": 815,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 821,
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"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_006723644.3",
"protein_id": "XP_006723707.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 489,
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"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_017028082.2",
"protein_id": "XP_016883571.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
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"cds_start": 854,
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"cdna_start": 860,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"transcript": "XM_017028083.2",
"protein_id": "XP_016883572.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 396,
"cds_start": 854,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.860C>T",
"hgvs_p": null,
"transcript": "XR_937151.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.860C>T",
"hgvs_p": null,
"transcript": "XR_937152.2",
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{
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"splice_source_selected": "max_spliceai",
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"phylop100way_prediction": "Benign",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"missense_variant"
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"inheritance_mode": "AR",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}