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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: 15-56921085-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=56921085&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 56921085,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000333725.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_207037.2",
"protein_id": "NP_996920.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 706,
"cds_start": 135,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": "ENST00000333725.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "ENST00000333725.10",
"protein_id": "ENSP00000331057.6",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 706,
"cds_start": 135,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": "NM_207037.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "ENST00000267811.9",
"protein_id": "ENSP00000267811.5",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 682,
"cds_start": 135,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "ENST00000557843.5",
"protein_id": "ENSP00000453737.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 682,
"cds_start": 135,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 4076,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "n.389A>G",
"hgvs_p": null,
"transcript": "ENST00000560190.5",
"protein_id": null,
"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": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322151.2",
"protein_id": "NP_001309080.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 706,
"cds_start": 135,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322159.3",
"protein_id": "NP_001309088.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 706,
"cds_start": 135,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322162.2",
"protein_id": "NP_001309091.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 706,
"cds_start": 135,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_207036.2",
"protein_id": "NP_996919.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 706,
"cds_start": 135,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "ENST00000438423.6",
"protein_id": "ENSP00000388940.2",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 706,
"cds_start": 135,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322152.2",
"protein_id": "NP_001309081.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 705,
"cds_start": 135,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322161.2",
"protein_id": "NP_001309090.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 705,
"cds_start": 135,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 5990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322164.2",
"protein_id": "NP_001309093.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 694,
"cds_start": 135,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 6262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322157.3",
"protein_id": "NP_001309086.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 682,
"cds_start": 135,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_001322165.2",
"protein_id": "NP_001309094.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 682,
"cds_start": 135,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_003205.4",
"protein_id": "NP_003196.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 682,
"cds_start": 135,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "NM_207038.2",
"protein_id": "NP_996921.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 682,
"cds_start": 135,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "ENST00000559609.5",
"protein_id": "ENSP00000453876.1",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 665,
"cds_start": 135,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "ENST00000557947.5",
"protein_id": "ENSP00000454109.1",
"transcript_support_level": 4,
"aa_start": 45,
"aa_end": null,
"aa_length": 156,
"cds_start": 135,
"cds_end": null,
"cds_length": 472,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "XM_011521959.4",
"protein_id": "XP_011520261.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 718,
"cds_start": 135,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "XM_011521960.4",
"protein_id": "XP_011520262.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 718,
"cds_start": 135,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "XM_011521961.4",
"protein_id": "XP_011520263.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 717,
"cds_start": 135,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Gln45Gln",
"transcript": "XM_011521962.4",
"protein_id": "XP_011520264.1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.57,
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"phylop100way_prediction": "Benign",
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"acmg_score": -21,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
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"criteria": [
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"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000333725.10",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}