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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: 19-39369963-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39369963&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39369963,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000610417.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384574.2",
"protein_id": "NP_001371503.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": "ENST00000610417.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"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": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000610417.5",
"protein_id": "ENSP00000484229.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": "NM_001384574.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000314471.10",
"protein_id": "ENSP00000317224.5",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000598913.5",
"protein_id": "ENSP00000470237.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 692,
"cds_start": 505,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "ENST00000596368.1",
"protein_id": "ENSP00000471509.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 325,
"cds_start": 505,
"cds_end": null,
"cds_length": 978,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384565.1",
"protein_id": "NP_001371494.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384566.1",
"protein_id": "NP_001371495.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384568.1",
"protein_id": "NP_001371497.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384569.1",
"protein_id": "NP_001371498.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384570.1",
"protein_id": "NP_001371499.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384571.1",
"protein_id": "NP_001371500.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384573.1",
"protein_id": "NP_001371502.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384575.1",
"protein_id": "NP_001371504.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384576.1",
"protein_id": "NP_001371505.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
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"cdna_start": 1023,
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"cdna_length": 3964,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384577.1",
"protein_id": "NP_001371506.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384578.1",
"protein_id": "NP_001371507.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
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"cds_start": 505,
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"cdna_start": 1125,
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"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_018028.4",
"protein_id": "NP_060498.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 694,
"cds_start": 505,
"cds_end": null,
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"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384595.1",
"protein_id": "NP_001371524.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 693,
"cds_start": 505,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001303614.2",
"protein_id": "NP_001290543.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
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"cdna_start": 866,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384580.1",
"protein_id": "NP_001371509.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 692,
"cds_start": 505,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384581.1",
"protein_id": "NP_001371510.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 692,
"cds_start": 505,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"transcript": "NM_001384582.1",
"protein_id": "NP_001371511.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 692,
"cds_start": 505,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "SAMD4B",
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},
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],
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}
],
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"computational_score_selected": 0.3869207799434662,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.051,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000610417.5",
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"hgnc_id": 25492,
"effects": [
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],
"inheritance_mode": "AD",
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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
}