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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: 10-113589048-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=113589048&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 113589048,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001261463.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5120A>T",
"hgvs_p": "p.His1707Leu",
"transcript": "NM_198060.4",
"protein_id": "NP_932326.2",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5120,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359988.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198060.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5120A>T",
"hgvs_p": "p.His1707Leu",
"transcript": "ENST00000359988.4",
"protein_id": "ENSP00000353078.3",
"transcript_support_level": 1,
"aa_start": 1707,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5120,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198060.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359988.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5123A>T",
"hgvs_p": "p.His1708Leu",
"transcript": "ENST00000369358.8",
"protein_id": "ENSP00000358365.4",
"transcript_support_level": 1,
"aa_start": 1708,
"aa_end": null,
"aa_length": 1731,
"cds_start": 5123,
"cds_end": null,
"cds_length": 5196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369358.8"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5015A>T",
"hgvs_p": "p.His1672Leu",
"transcript": "ENST00000360478.7",
"protein_id": "ENSP00000353666.3",
"transcript_support_level": 1,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1695,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360478.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HABP2",
"gene_hgnc_id": 4798,
"hgvs_c": "c.*679T>A",
"hgvs_p": null,
"transcript": "NM_004132.5",
"protein_id": "NP_004123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": null,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351270.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004132.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HABP2",
"gene_hgnc_id": 4798,
"hgvs_c": "c.*679T>A",
"hgvs_p": null,
"transcript": "ENST00000351270.4",
"protein_id": "ENSP00000277903.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": null,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004132.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351270.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5123A>T",
"hgvs_p": "p.His1708Leu",
"transcript": "NM_001261463.2",
"protein_id": "NP_001248392.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 1731,
"cds_start": 5123,
"cds_end": null,
"cds_length": 5196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261463.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5039A>T",
"hgvs_p": "p.His1680Leu",
"transcript": "ENST00000369360.7",
"protein_id": "ENSP00000358367.3",
"transcript_support_level": 5,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1703,
"cds_start": 5039,
"cds_end": null,
"cds_length": 5112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369360.7"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5021A>T",
"hgvs_p": "p.His1674Leu",
"transcript": "ENST00000945588.1",
"protein_id": "ENSP00000615647.1",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1697,
"cds_start": 5021,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945588.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5018A>T",
"hgvs_p": "p.His1673Leu",
"transcript": "ENST00000883351.1",
"protein_id": "ENSP00000553410.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1696,
"cds_start": 5018,
"cds_end": null,
"cds_length": 5091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883351.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5015A>T",
"hgvs_p": "p.His1672Leu",
"transcript": "NM_006175.5",
"protein_id": "NP_006166.3",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1695,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006175.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5015A>T",
"hgvs_p": "p.His1672Leu",
"transcript": "ENST00000883369.1",
"protein_id": "ENSP00000553428.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1695,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883369.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5015A>T",
"hgvs_p": "p.His1672Leu",
"transcript": "ENST00000945556.1",
"protein_id": "ENSP00000615615.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1695,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945556.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5012A>T",
"hgvs_p": "p.His1671Leu",
"transcript": "NM_001322945.2",
"protein_id": "NP_001309874.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1694,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322945.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5012A>T",
"hgvs_p": "p.His1671Leu",
"transcript": "ENST00000945563.1",
"protein_id": "ENSP00000615622.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1694,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945563.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5012A>T",
"hgvs_p": "p.His1671Leu",
"transcript": "ENST00000945565.1",
"protein_id": "ENSP00000615624.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1694,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945565.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5012A>T",
"hgvs_p": "p.His1671Leu",
"transcript": "ENST00000945582.1",
"protein_id": "ENSP00000615641.1",
"transcript_support_level": null,
"aa_start": 1671,
"aa_end": null,
"aa_length": 1694,
"cds_start": 5012,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945582.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5009A>T",
"hgvs_p": "p.His1670Leu",
"transcript": "ENST00000945579.1",
"protein_id": "ENSP00000615638.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 1693,
"cds_start": 5009,
"cds_end": null,
"cds_length": 5082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945579.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.5006A>T",
"hgvs_p": "p.His1669Leu",
"transcript": "ENST00000945573.1",
"protein_id": "ENSP00000615632.1",
"transcript_support_level": null,
"aa_start": 1669,
"aa_end": null,
"aa_length": 1692,
"cds_start": 5006,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945573.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4976A>T",
"hgvs_p": "p.His1659Leu",
"transcript": "ENST00000945586.1",
"protein_id": "ENSP00000615645.1",
"transcript_support_level": null,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1682,
"cds_start": 4976,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945586.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4916A>T",
"hgvs_p": "p.His1639Leu",
"transcript": "ENST00000945554.1",
"protein_id": "ENSP00000615613.1",
"transcript_support_level": null,
"aa_start": 1639,
"aa_end": null,
"aa_length": 1662,
"cds_start": 4916,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945554.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4913A>T",
"hgvs_p": "p.His1638Leu",
"transcript": "ENST00000883355.1",
"protein_id": "ENSP00000553414.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4913,
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{
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],
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"dbsnp": "rs753862222",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14370745420455933,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.935,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001261463.2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": -6,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}