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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: 3-195279401-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195279401&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 195279401,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012287.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2264G>A",
"hgvs_p": "p.Arg755His",
"transcript": "NM_012287.6",
"protein_id": "NP_036419.3",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 778,
"cds_start": 2264,
"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": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2264G>A",
"hgvs_p": "p.Arg755His",
"transcript": "ENST00000326793.11",
"protein_id": "ENSP00000324287.6",
"transcript_support_level": 1,
"aa_start": 755,
"aa_end": null,
"aa_length": 778,
"cds_start": 2264,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2453G>A",
"hgvs_p": "p.Arg818His",
"transcript": "ENST00000867120.1",
"protein_id": "ENSP00000537179.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 841,
"cds_start": 2453,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2369G>A",
"hgvs_p": "p.Arg790His",
"transcript": "ENST00000867114.1",
"protein_id": "ENSP00000537173.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 813,
"cds_start": 2369,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783His",
"transcript": "ENST00000867112.1",
"protein_id": "ENSP00000537171.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 806,
"cds_start": 2348,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2279G>A",
"hgvs_p": "p.Arg760His",
"transcript": "ENST00000957235.1",
"protein_id": "ENSP00000627294.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 783,
"cds_start": 2279,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754His",
"transcript": "ENST00000867115.1",
"protein_id": "ENSP00000537174.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 777,
"cds_start": 2261,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754His",
"transcript": "ENST00000867116.1",
"protein_id": "ENSP00000537175.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 777,
"cds_start": 2261,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754His",
"transcript": "ENST00000957234.1",
"protein_id": "ENSP00000627293.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 777,
"cds_start": 2261,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Arg747His",
"transcript": "ENST00000867117.1",
"protein_id": "ENSP00000537176.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 770,
"cds_start": 2240,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2228G>A",
"hgvs_p": "p.Arg743His",
"transcript": "ENST00000912823.1",
"protein_id": "ENSP00000582882.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 766,
"cds_start": 2228,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2219G>A",
"hgvs_p": "p.Arg740His",
"transcript": "ENST00000912824.1",
"protein_id": "ENSP00000582883.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 763,
"cds_start": 2219,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Arg737His",
"transcript": "ENST00000867113.1",
"protein_id": "ENSP00000537172.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 760,
"cds_start": 2210,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2189G>A",
"hgvs_p": "p.Arg730His",
"transcript": "ENST00000957238.1",
"protein_id": "ENSP00000627297.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 753,
"cds_start": 2189,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723His",
"transcript": "ENST00000867119.1",
"protein_id": "ENSP00000537178.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 746,
"cds_start": 2168,
"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": "R",
"aa_alt": "H",
"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": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Arg697His",
"transcript": "ENST00000867118.1",
"protein_id": "ENSP00000537177.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 720,
"cds_start": 2090,
"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": "R",
"aa_alt": "H",
"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": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683His",
"transcript": "ENST00000957236.1",
"protein_id": "ENSP00000627295.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 706,
"cds_start": 2048,
"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": "R",
"aa_alt": "H",
"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": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Arg662His",
"transcript": "ENST00000957237.1",
"protein_id": "ENSP00000627296.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 685,
"cds_start": 1985,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2474G>A",
"hgvs_p": "p.Arg825His",
"transcript": "XM_017006046.2",
"protein_id": "XP_016861535.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 848,
"cds_start": 2474,
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"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2453G>A",
"hgvs_p": "p.Arg818His",
"transcript": "XM_017006047.2",
"protein_id": "XP_016861536.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 841,
"cds_start": 2453,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006047.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2390G>A",
"hgvs_p": "p.Arg797His",
"transcript": "XM_011512602.3",
"protein_id": "XP_011510904.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 820,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512602.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.2369G>A",
"hgvs_p": "p.Arg790His",
"transcript": "XM_011512603.3",
"protein_id": "XP_011510905.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 813,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
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{
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{
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{
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "ACAP2",
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"dbsnp": "rs371113193",
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2860841155052185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": 0.3022,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.385,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_012287.6",
"gene_symbol": "ACAP2",
"hgnc_id": 16469,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2264G>A",
"hgvs_p": "p.Arg755His"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000730353.1",
"gene_symbol": "ENSG00000295476",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.126+7925C>T",
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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
}