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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: 2-230169128-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230169128&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230169128,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378442.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2138C>G",
"hgvs_p": "p.Pro713Arg",
"transcript": "NM_080424.4",
"protein_id": "NP_536349.3",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 713,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258381.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080424.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2138C>G",
"hgvs_p": "p.Pro713Arg",
"transcript": "ENST00000258381.11",
"protein_id": "ENSP00000258381.6",
"transcript_support_level": 2,
"aa_start": 713,
"aa_end": null,
"aa_length": 713,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080424.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258381.11"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2066C>G",
"hgvs_p": "p.Pro689Arg",
"transcript": "ENST00000358662.9",
"protein_id": "ENSP00000351488.4",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 689,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358662.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Pro745Arg",
"transcript": "NM_001378442.1",
"protein_id": "NP_001365371.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 745,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378442.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Pro739Arg",
"transcript": "NM_001378443.1",
"protein_id": "NP_001365372.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 739,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378443.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Pro719Arg",
"transcript": "NM_001378444.1",
"protein_id": "NP_001365373.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 719,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378444.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2084C>G",
"hgvs_p": "p.Pro695Arg",
"transcript": "NM_001378445.1",
"protein_id": "NP_001365374.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 695,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378445.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2066C>G",
"hgvs_p": "p.Pro689Arg",
"transcript": "NM_004509.5",
"protein_id": "NP_004500.4",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 689,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004509.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2066C>G",
"hgvs_p": "p.Pro689Arg",
"transcript": "ENST00000897327.1",
"protein_id": "ENSP00000567386.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 689,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897327.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1997C>G",
"hgvs_p": "p.Pro666Arg",
"transcript": "ENST00000948170.1",
"protein_id": "ENSP00000618229.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 666,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948170.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1943C>G",
"hgvs_p": "p.Pro648Arg",
"transcript": "NM_001378446.1",
"protein_id": "NP_001365375.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 648,
"cds_start": 1943,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378446.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1925C>G",
"hgvs_p": "p.Pro642Arg",
"transcript": "ENST00000897325.1",
"protein_id": "ENSP00000567384.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 642,
"cds_start": 1925,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897325.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1916C>G",
"hgvs_p": "p.Pro639Arg",
"transcript": "ENST00000897328.1",
"protein_id": "ENSP00000567387.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 639,
"cds_start": 1916,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897328.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1898C>G",
"hgvs_p": "p.Pro633Arg",
"transcript": "ENST00000931303.1",
"protein_id": "ENSP00000601362.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 633,
"cds_start": 1898,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931303.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1847C>G",
"hgvs_p": "p.Pro616Arg",
"transcript": "ENST00000948168.1",
"protein_id": "ENSP00000618227.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 616,
"cds_start": 1847,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948168.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1775C>G",
"hgvs_p": "p.Pro592Arg",
"transcript": "ENST00000897326.1",
"protein_id": "ENSP00000567385.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 592,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897326.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1556C>G",
"hgvs_p": "p.Pro519Arg",
"transcript": "ENST00000948169.1",
"protein_id": "ENSP00000618228.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 519,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948169.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Pro745Arg",
"transcript": "XM_017003968.3",
"protein_id": "XP_016859457.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 745,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003968.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2084C>G",
"hgvs_p": "p.Pro695Arg",
"transcript": "XM_011511090.4",
"protein_id": "XP_011509392.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 695,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511090.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2015C>G",
"hgvs_p": "p.Pro672Arg",
"transcript": "XM_011511091.4",
"protein_id": "XP_011509393.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 672,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511091.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1925C>G",
"hgvs_p": "p.Pro642Arg",
"transcript": "XM_047444120.1",
"protein_id": "XP_047300076.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 642,
"cds_start": 1925,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444120.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1793C>G",
"hgvs_p": "p.Pro598Arg",
"transcript": "XM_024452850.2",
"protein_id": "XP_024308618.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 598,
"cds_start": 1793,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452850.2"
},
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"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
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"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001378442.1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -2,
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"verdict": "Likely_benign",
"transcript": "ENST00000454058.4",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.1071-2971G>C",
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}
],
"clinvar_disease": "Hepatic veno-occlusive disease-immunodeficiency syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Hepatic veno-occlusive disease-immunodeficiency syndrome|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}