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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: 18-34879596-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34879596&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 34879596,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000444659.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"transcript": "NM_001386795.1",
"protein_id": "NP_001373724.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 770,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "ENST00000444659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"transcript": "ENST00000444659.6",
"protein_id": "ENSP00000405819.2",
"transcript_support_level": 5,
"aa_start": 680,
"aa_end": null,
"aa_length": 770,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "NM_001386795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "ENST00000598334.5",
"protein_id": "ENSP00000470152.1",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 724,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600Gln",
"transcript": "ENST00000399121.9",
"protein_id": "ENSP00000382072.5",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 690,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1787G>A",
"hgvs_p": "p.Arg596Gln",
"transcript": "ENST00000598142.5",
"protein_id": "ENSP00000470716.1",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 686,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "ENST00000595022.5",
"protein_id": "ENSP00000473078.1",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 683,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.902G>A",
"hgvs_p": "p.Arg301Gln",
"transcript": "ENST00000591182.5",
"protein_id": "ENSP00000467720.1",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 391,
"cds_start": 902,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"transcript": "NM_001386788.1",
"protein_id": "NP_001373717.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 770,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"transcript": "ENST00000679796.1",
"protein_id": "ENSP00000506659.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 770,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "NM_001390.5",
"protein_id": "NP_001381.2",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 743,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "ENST00000399113.7",
"protein_id": "ENSP00000382064.3",
"transcript_support_level": 5,
"aa_start": 653,
"aa_end": null,
"aa_length": 743,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "NM_001198938.2",
"protein_id": "NP_001185867.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 724,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "NM_001386753.1",
"protein_id": "NP_001373682.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 724,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "NM_001386754.1",
"protein_id": "NP_001373683.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "NM_001386755.1",
"protein_id": "NP_001373684.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "NM_001386756.1",
"protein_id": "NP_001373685.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "NM_001386757.1",
"protein_id": "NP_001373686.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "NM_001386758.1",
"protein_id": "NP_001373687.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 6401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "NM_001386759.1",
"protein_id": "NP_001373688.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "ENST00000680822.1",
"protein_id": "ENSP00000505718.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2021,
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"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Arg623Gln",
"transcript": "ENST00000684266.1",
"protein_id": "ENSP00000507106.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "NM_001386760.1",
"protein_id": "NP_001373689.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 712,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
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{
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],
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"computational_score_selected": 0.39820006489753723,
"computational_prediction_selected": "Benign",
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"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.13,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.128,
"phylop100way_prediction": "Uncertain_significance",
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"dbscsnv_ada_score": null,
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"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000444659.6",
"gene_symbol": "DTNA",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2039G>A",
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{
"score": -2,
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"criteria": [
"BP4",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000772168.1",
"gene_symbol": "ENSG00000278464",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.853C>T",
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}
],
"clinvar_disease": "Left ventricular noncompaction 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not provided|Left ventricular noncompaction 1|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}