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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: 2-74363337-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74363337&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"hgvs_c": "c.3302G>A",
"hgvs_p": "p.Arg1101Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_004082.5",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000264324",
"hgnc_id": null,
"hgvs_c": "n.41G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000451608.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 28,
"alphamissense_prediction": null,
"alphamissense_score": 0.1064,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " distal hereditary motor, susceptibility to, type 7B,Amyotrophic lateral sclerosis,Amyotrophic lateral sclerosis type 1,Inborn genetic diseases,Neuronopathy,Perry syndrome,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.29399675130844116,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3576,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3302,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_004082.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3302G>A",
"hgvs_p": "p.Arg1101Lys",
"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": "K",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3576,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3302,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000628224.3",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3302G>A",
"hgvs_p": "p.Arg1101Lys",
"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": "K",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "R",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4485,
"cdna_start": 3605,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3287,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000361874.8",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3287G>A",
"hgvs_p": "p.Arg1096Lys",
"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": "K",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3227,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000409567.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3227G>A",
"hgvs_p": "p.Arg1076Lys",
"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": "K",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "R",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 3488,
"cds_end": null,
"cds_length": 3711,
"cds_start": 3176,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000409240.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3176G>A",
"hgvs_p": "p.Arg1059Lys",
"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": "K",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 3268,
"cds_end": null,
"cds_length": 3420,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000409438.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2885G>A",
"hgvs_p": "p.Arg962Lys",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5059,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000451608.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000264324",
"hgvs_c": "n.41G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416453.2",
"strand": false,
"transcript": "ENST00000451608.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000491465.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "n.1565G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491465.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "R",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 3555,
"cds_end": null,
"cds_length": 3816,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001190837.2",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3281G>A",
"hgvs_p": "p.Arg1094Lys",
"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": "K",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "R",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 3599,
"cds_end": null,
"cds_length": 3816,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000394003.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3281G>A",
"hgvs_p": "p.Arg1094Lys",
"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": "K",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 1089,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": 3562,
"cds_end": null,
"cds_length": 3801,
"cds_start": 3266,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000898642.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3266G>A",
"hgvs_p": "p.Arg1089Lys",
"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": "K",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 1089,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 3580,
"cds_end": null,
"cds_length": 3801,
"cds_start": 3266,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000971125.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3266G>A",
"hgvs_p": "p.Arg1089Lys",
"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": "K",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3263,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000971127.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Arg1088Lys",
"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": "K",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 3503,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3263,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000971130.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Arg1088Lys",
"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
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": 3503,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3263,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000971131.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Arg1088Lys",
"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": "K",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3251,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001378991.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3251G>A",
"hgvs_p": "p.Arg1084Lys",
"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": "K",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3251,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000680606.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3251G>A",
"hgvs_p": "p.Arg1084Lys",
"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": "K",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "R",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 3544,
"cds_end": null,
"cds_length": 3783,
"cds_start": 3248,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000898641.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3248G>A",
"hgvs_p": "p.Arg1083Lys",
"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": "K",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "R",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3245,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000971128.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3245G>A",
"hgvs_p": "p.Arg1082Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641187.1",
"strand": false,
"transcript": "ENST00000971128.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "R",
"aa_start": 1081,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 3481,
"cds_end": null,
"cds_length": 3777,
"cds_start": 3242,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000971133.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Arg1081Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641192.1",
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