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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: 2-74367392-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74367392&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74367392,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004082.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Gln738Arg",
"transcript": "NM_004082.5",
"protein_id": "NP_004073.2",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "ENST00000628224.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004082.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Gln738Arg",
"transcript": "ENST00000628224.3",
"protein_id": "ENSP00000487279.2",
"transcript_support_level": 5,
"aa_start": 738,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "NM_004082.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628224.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Gln738Arg",
"transcript": "ENST00000361874.8",
"protein_id": "ENSP00000354791.4",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361874.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2153A>G",
"hgvs_p": "p.Gln718Arg",
"transcript": "ENST00000409567.7",
"protein_id": "ENSP00000386843.3",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409567.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2102A>G",
"hgvs_p": "p.Gln701Arg",
"transcript": "ENST00000409240.5",
"protein_id": "ENSP00000386406.1",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2102,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409240.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Gln604Arg",
"transcript": "ENST00000409438.5",
"protein_id": "ENSP00000387270.1",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1811,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409438.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2192A>G",
"hgvs_p": "p.Gln731Arg",
"transcript": "NM_001190837.2",
"protein_id": "NP_001177766.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190837.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2192A>G",
"hgvs_p": "p.Gln731Arg",
"transcript": "ENST00000394003.7",
"protein_id": "ENSP00000377571.3",
"transcript_support_level": 5,
"aa_start": 731,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394003.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2192A>G",
"hgvs_p": "p.Gln731Arg",
"transcript": "ENST00000898642.1",
"protein_id": "ENSP00000568701.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2192,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898642.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.Gln726Arg",
"transcript": "ENST00000971125.1",
"protein_id": "ENSP00000641184.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971125.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2174A>G",
"hgvs_p": "p.Gln725Arg",
"transcript": "ENST00000971127.1",
"protein_id": "ENSP00000641186.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971127.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2174A>G",
"hgvs_p": "p.Gln725Arg",
"transcript": "ENST00000971130.1",
"protein_id": "ENSP00000641189.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971130.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2189A>G",
"hgvs_p": "p.Gln730Arg",
"transcript": "ENST00000971131.1",
"protein_id": "ENSP00000641190.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2189,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971131.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Gln721Arg",
"transcript": "NM_001378991.1",
"protein_id": "NP_001365920.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378991.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Gln721Arg",
"transcript": "ENST00000680606.1",
"protein_id": "ENSP00000505612.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680606.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2174A>G",
"hgvs_p": "p.Gln725Arg",
"transcript": "ENST00000898641.1",
"protein_id": "ENSP00000568700.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898641.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2171A>G",
"hgvs_p": "p.Gln724Arg",
"transcript": "ENST00000971128.1",
"protein_id": "ENSP00000641187.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2171,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971128.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Gln723Arg",
"transcript": "ENST00000971133.1",
"protein_id": "ENSP00000641192.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971133.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2162A>G",
"hgvs_p": "p.Gln721Arg",
"transcript": "ENST00000409868.5",
"protein_id": "ENSP00000387327.1",
"transcript_support_level": 5,
"aa_start": 721,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409868.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2144A>G",
"hgvs_p": "p.Gln715Arg",
"transcript": "NM_001378992.1",
"protein_id": "NP_001365921.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2144,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378992.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2153A>G",
"hgvs_p": "p.Gln718Arg",
"transcript": "NM_001135040.3",
"protein_id": "NP_001128512.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135040.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Gln717Arg",
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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{
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"verdict": "Benign",
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],
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Perry syndrome|Amyotrophic lateral sclerosis type 1;Neuronopathy, distal hereditary motor, type 7B;Perry syndrome|Neuronopathy, distal hereditary motor, type 7B|Inborn genetic diseases|DCTN1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}