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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: 13-50953950-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=50953950&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 50953950,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024570.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Thr263Ala",
"transcript": "NM_024570.4",
"protein_id": "NP_078846.2",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 312,
"cds_start": 787,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336617.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024570.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Thr263Ala",
"transcript": "ENST00000336617.8",
"protein_id": "ENSP00000337623.2",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 312,
"cds_start": 787,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024570.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336617.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Thr263Ala",
"transcript": "ENST00000646960.1",
"protein_id": "ENSP00000496481.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 355,
"cds_start": 787,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646960.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Thr233Ala",
"transcript": "ENST00000643159.1",
"protein_id": "ENSP00000495587.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 324,
"cds_start": 697,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643159.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Thr263Ala",
"transcript": "ENST00000642721.1",
"protein_id": "ENSP00000495650.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 319,
"cds_start": 787,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642721.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.808A>G",
"hgvs_p": "p.Thr270Ala",
"transcript": "ENST00000713971.1",
"protein_id": "ENSP00000519263.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 319,
"cds_start": 808,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713971.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Thr262Ala",
"transcript": "ENST00000951840.1",
"protein_id": "ENSP00000621899.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 311,
"cds_start": 784,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951840.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Thr262Ala",
"transcript": "ENST00000951841.1",
"protein_id": "ENSP00000621900.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 311,
"cds_start": 784,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951841.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Thr260Ala",
"transcript": "ENST00000645188.1",
"protein_id": "ENSP00000496224.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 309,
"cds_start": 778,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645188.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Thr260Ala",
"transcript": "ENST00000913790.1",
"protein_id": "ENSP00000583849.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 309,
"cds_start": 778,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913790.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala",
"transcript": "ENST00000951842.1",
"protein_id": "ENSP00000621901.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 308,
"cds_start": 775,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951842.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Thr251Ala",
"transcript": "ENST00000643774.1",
"protein_id": "ENSP00000495482.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 300,
"cds_start": 751,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643774.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Thr263Ala",
"transcript": "ENST00000643682.1",
"protein_id": "ENSP00000493655.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 293,
"cds_start": 787,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643682.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Thr263Ala",
"transcript": "ENST00000616907.2",
"protein_id": "ENSP00000482701.2",
"transcript_support_level": 3,
"aa_start": 263,
"aa_end": null,
"aa_length": 289,
"cds_start": 787,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616907.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.787A>G",
"hgvs_p": "p.Thr263Ala",
"transcript": "ENST00000645955.1",
"protein_id": "ENSP00000495755.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 289,
"cds_start": 787,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645955.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Thr233Ala",
"transcript": "ENST00000611510.5",
"protein_id": "ENSP00000481236.3",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 282,
"cds_start": 697,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611510.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Thr233Ala",
"transcript": "ENST00000637648.3",
"protein_id": "ENSP00000490077.3",
"transcript_support_level": 3,
"aa_start": 233,
"aa_end": null,
"aa_length": 282,
"cds_start": 697,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637648.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Thr233Ala",
"transcript": "ENST00000646709.1",
"protein_id": "ENSP00000495278.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 282,
"cds_start": 697,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646709.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Thr233Ala",
"transcript": "ENST00000713976.1",
"protein_id": "ENSP00000519267.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 282,
"cds_start": 697,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713976.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "ENST00000642995.1",
"protein_id": "ENSP00000493499.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 273,
"cds_start": 670,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642995.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Thr251Ala",
"transcript": "ENST00000645370.2",
"protein_id": "ENSP00000494019.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 272,
"cds_start": 751,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645370.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASEH2B",
"gene_hgnc_id": 25671,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Thr251Ala",
"transcript": "ENST00000643215.2",
"protein_id": "ENSP00000495031.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 269,
"cds_start": 751,
"cds_end": null,
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"computational_score_selected": 0.24774646759033203,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3005,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.491,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
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"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_024570.4",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.787A>G",
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],
"clinvar_disease": "Aicardi-Goutieres syndrome 2,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not provided|Aicardi-Goutieres syndrome 2|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}