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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: 2-74369993-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74369993&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"hgvs_c": "c.1364G>T",
"hgvs_p": "p.Arg455Leu",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004082.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4784,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7843319773674011,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004082.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1364G>T",
"hgvs_p": "p.Arg455Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000628224.3",
"protein_coding": true,
"protein_id": "NP_004073.2",
"strand": false,
"transcript": "NM_004082.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000628224.3",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1364G>T",
"hgvs_p": "p.Arg455Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004082.5",
"protein_coding": true,
"protein_id": "ENSP00000487279.2",
"strand": false,
"transcript": "ENST00000628224.3",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4485,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 3822,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000361874.8",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1364G>T",
"hgvs_p": "p.Arg455Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354791.4",
"strand": false,
"transcript": "ENST00000361874.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 3762,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409567.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1304G>T",
"hgvs_p": "p.Arg435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386843.3",
"strand": false,
"transcript": "ENST00000409567.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 3711,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000409240.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1253G>T",
"hgvs_p": "p.Arg418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386406.1",
"strand": false,
"transcript": "ENST00000409240.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 3420,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409438.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.962G>T",
"hgvs_p": "p.Arg321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387270.1",
"strand": false,
"transcript": "ENST00000409438.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 3816,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001190837.2",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177766.1",
"strand": false,
"transcript": "NM_001190837.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 3816,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000394003.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377571.3",
"strand": false,
"transcript": "ENST00000394003.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 3801,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000898642.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568701.1",
"strand": false,
"transcript": "ENST00000898642.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 3801,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971125.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1364G>T",
"hgvs_p": "p.Arg455Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641184.1",
"strand": false,
"transcript": "ENST00000971125.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 3798,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971127.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1325G>T",
"hgvs_p": "p.Arg442Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641186.1",
"strand": false,
"transcript": "ENST00000971127.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1265,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 3798,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971130.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1325G>T",
"hgvs_p": "p.Arg442Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641189.1",
"strand": false,
"transcript": "ENST00000971130.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 3798,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971131.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Arg447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641190.1",
"strand": false,
"transcript": "ENST00000971131.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 3786,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378991.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Arg438Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365920.1",
"strand": false,
"transcript": "NM_001378991.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1261,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 3786,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000680606.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Arg438Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505612.1",
"strand": false,
"transcript": "ENST00000680606.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 3783,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000898641.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1325G>T",
"hgvs_p": "p.Arg442Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568700.1",
"strand": false,
"transcript": "ENST00000898641.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "R",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 3780,
"cds_start": 1322,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971128.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1322G>T",
"hgvs_p": "p.Arg441Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641187.1",
"strand": false,
"transcript": "ENST00000971128.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 3777,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971133.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1319G>T",
"hgvs_p": "p.Arg440Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641192.1",
"strand": false,
"transcript": "ENST00000971133.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 3771,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000409868.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1313G>T",
"hgvs_p": "p.Arg438Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387327.1",
"strand": false,
"transcript": "ENST00000409868.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "R",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 3768,
"cds_start": 1295,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378992.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365921.1",
"strand": false,
"transcript": "NM_001378992.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 3762,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001135040.3",
"gene_hgnc_id": 2711,
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