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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: 3-195291766-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195291766&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 195291766,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012287.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2003A>G",
"hgvs_p": "p.Asn668Ser",
"transcript": "NM_012287.6",
"protein_id": "NP_036419.3",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 778,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326793.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012287.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2003A>G",
"hgvs_p": "p.Asn668Ser",
"transcript": "ENST00000326793.11",
"protein_id": "ENSP00000324287.6",
"transcript_support_level": 1,
"aa_start": 668,
"aa_end": null,
"aa_length": 778,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326793.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2192A>G",
"hgvs_p": "p.Asn731Ser",
"transcript": "ENST00000867120.1",
"protein_id": "ENSP00000537179.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 841,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867120.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "ENST00000867114.1",
"protein_id": "ENSP00000537173.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 813,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867114.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "ENST00000450200.2",
"protein_id": "ENSP00000412338.2",
"transcript_support_level": 5,
"aa_start": 703,
"aa_end": null,
"aa_length": 808,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450200.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2087A>G",
"hgvs_p": "p.Asn696Ser",
"transcript": "ENST00000867112.1",
"protein_id": "ENSP00000537171.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 806,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867112.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2018A>G",
"hgvs_p": "p.Asn673Ser",
"transcript": "ENST00000957235.1",
"protein_id": "ENSP00000627294.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 783,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957235.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Asn667Ser",
"transcript": "ENST00000867115.1",
"protein_id": "ENSP00000537174.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 777,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867115.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Asn667Ser",
"transcript": "ENST00000867116.1",
"protein_id": "ENSP00000537175.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 777,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867116.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Asn667Ser",
"transcript": "ENST00000957234.1",
"protein_id": "ENSP00000627293.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 777,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957234.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.Asn660Ser",
"transcript": "ENST00000867117.1",
"protein_id": "ENSP00000537176.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 770,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867117.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Asn656Ser",
"transcript": "ENST00000912823.1",
"protein_id": "ENSP00000582882.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 766,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912823.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1958A>G",
"hgvs_p": "p.Asn653Ser",
"transcript": "ENST00000912824.1",
"protein_id": "ENSP00000582883.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 763,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912824.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1949A>G",
"hgvs_p": "p.Asn650Ser",
"transcript": "ENST00000867113.1",
"protein_id": "ENSP00000537172.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 760,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867113.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1928A>G",
"hgvs_p": "p.Asn643Ser",
"transcript": "ENST00000957238.1",
"protein_id": "ENSP00000627297.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 753,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957238.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1907A>G",
"hgvs_p": "p.Asn636Ser",
"transcript": "ENST00000867119.1",
"protein_id": "ENSP00000537178.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 746,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867119.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1829A>G",
"hgvs_p": "p.Asn610Ser",
"transcript": "ENST00000867118.1",
"protein_id": "ENSP00000537177.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 720,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867118.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1787A>G",
"hgvs_p": "p.Asn596Ser",
"transcript": "ENST00000957236.1",
"protein_id": "ENSP00000627295.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 706,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957236.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1724A>G",
"hgvs_p": "p.Asn575Ser",
"transcript": "ENST00000957237.1",
"protein_id": "ENSP00000627296.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 685,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957237.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.329A>G",
"hgvs_p": "p.Asn110Ser",
"transcript": "ENST00000466876.2",
"protein_id": "ENSP00000500381.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 329,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466876.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Asn738Ser",
"transcript": "XM_017006046.2",
"protein_id": "XP_016861535.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 848,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006046.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Asn738Ser",
"transcript": "XM_047447834.1",
"protein_id": "XP_047303790.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 843,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"allele_count_reference_population": 17,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012287.6",
"gene_symbol": "ACAP2",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.2003A>G",
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{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000730353.1",
"gene_symbol": "ENSG00000295476",
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"effects": [
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],
"inheritance_mode": "",
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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
}