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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: 8-39026751-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=39026751&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 39026751,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000487273.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.His357His",
"transcript": "NM_003816.3",
"protein_id": "NP_003807.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 819,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": "ENST00000487273.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.His357His",
"transcript": "ENST00000487273.7",
"protein_id": "ENSP00000419446.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 819,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": "NM_003816.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000379917.7",
"protein_id": "ENSP00000369249.3",
"transcript_support_level": 1,
"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": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000468065.5",
"protein_id": "ENSP00000418737.1",
"transcript_support_level": 1,
"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": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000481873.7",
"protein_id": "ENSP00000418437.3",
"transcript_support_level": 1,
"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": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.His357His",
"transcript": "ENST00000677004.1",
"protein_id": "ENSP00000503932.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 850,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.His357His",
"transcript": "ENST00000677582.1",
"protein_id": "ENSP00000503648.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 754,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.His357His",
"transcript": "ENST00000676643.1",
"protein_id": "ENSP00000503079.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 707,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.His357His",
"transcript": "ENST00000676765.1",
"protein_id": "ENSP00000503374.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 575,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.His339His",
"transcript": "XM_011544682.3",
"protein_id": "XP_011542984.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 801,
"cds_start": 1017,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.His357His",
"transcript": "XM_047422390.1",
"protein_id": "XP_047278346.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 571,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.3945C>T",
"hgvs_p": null,
"transcript": "ENST00000481058.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 7079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.2184C>T",
"hgvs_p": null,
"transcript": "ENST00000676489.1",
"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": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000676617.1",
"protein_id": "ENSP00000504583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000676669.1",
"protein_id": "ENSP00000503215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.2192C>T",
"hgvs_p": null,
"transcript": "ENST00000676919.1",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000677137.1",
"protein_id": "ENSP00000502895.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000677165.1",
"protein_id": "ENSP00000502865.1",
"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,
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"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000677359.1",
"protein_id": "ENSP00000504373.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000677908.1",
"protein_id": "ENSP00000504640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.*802C>T",
"hgvs_p": null,
"transcript": "ENST00000678253.1",
"protein_id": "ENSP00000503454.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000678474.1",
"protein_id": "ENSP00000503418.1",
"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": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM9",
"gene_hgnc_id": 216,
"hgvs_c": "n.1071C>T",
"hgvs_p": null,
"transcript": "ENST00000678540.1",
"protein_id": "ENSP00000503206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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],
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_by_gene": [
{
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"BP7",
"BS1",
"BS2"
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"verdict": "Benign",
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"effects": [
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],
"clinvar_disease": "Cone-rod dystrophy 9,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:2",
"phenotype_combined": "not specified|not provided|Cone-rod dystrophy 9",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}