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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: 2-74366256-CCG-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74366256&ref=CCG&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"hgvs_c": "c.2746_2748delCGGinsTTA",
"hgvs_p": "p.Arg916Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004082.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3022,
"cds_end": null,
"cds_length": 3837,
"cds_start": 2746,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004082.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2746_2748delCGGinsTTA",
"hgvs_p": "p.Arg916Leu",
"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": 916,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3022,
"cds_end": null,
"cds_length": 3837,
"cds_start": 2746,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000628224.3",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2746_2748delCGGinsTTA",
"hgvs_p": "p.Arg916Leu",
"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": 916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4485,
"cdna_start": 3066,
"cds_end": null,
"cds_length": 3822,
"cds_start": 2746,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361874.8",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2746_2748delCGGinsTTA",
"hgvs_p": "p.Arg916Leu",
"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": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 3762,
"cds_start": 2686,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409567.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2686_2688delCGGinsTTA",
"hgvs_p": "p.Arg896Leu",
"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": 879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 2949,
"cds_end": null,
"cds_length": 3711,
"cds_start": 2635,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409240.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2635_2637delCGGinsTTA",
"hgvs_p": "p.Arg879Leu",
"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": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 2729,
"cds_end": null,
"cds_length": 3420,
"cds_start": 2344,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409438.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2344_2346delCGGinsTTA",
"hgvs_p": "p.Arg782Leu",
"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": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 3001,
"cds_end": null,
"cds_length": 3816,
"cds_start": 2725,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001190837.2",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2725_2727delCGGinsTTA",
"hgvs_p": "p.Arg909Leu",
"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": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 3045,
"cds_end": null,
"cds_length": 3816,
"cds_start": 2725,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394003.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2725_2727delCGGinsTTA",
"hgvs_p": "p.Arg909Leu",
"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": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": 3023,
"cds_end": null,
"cds_length": 3801,
"cds_start": 2725,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898642.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2725_2727delCGGinsTTA",
"hgvs_p": "p.Arg909Leu",
"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": 904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 3026,
"cds_end": null,
"cds_length": 3801,
"cds_start": 2710,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971125.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2710_2712delCGGinsTTA",
"hgvs_p": "p.Arg904Leu",
"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": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2707,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971127.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2707_2709delCGGinsTTA",
"hgvs_p": "p.Arg903Leu",
"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",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 2949,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2707,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971130.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2707_2709delCGGinsTTA",
"hgvs_p": "p.Arg903Leu",
"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": "L",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": 2964,
"cds_end": null,
"cds_length": 3798,
"cds_start": 2722,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971131.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2722_2724delCGGinsTTA",
"hgvs_p": "p.Arg908Leu",
"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": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 3786,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378991.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2695_2697delCGGinsTTA",
"hgvs_p": "p.Arg899Leu",
"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",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 3786,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680606.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2695_2697delCGGinsTTA",
"hgvs_p": "p.Arg899Leu",
"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": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 3783,
"cds_start": 2707,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898641.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2707_2709delCGGinsTTA",
"hgvs_p": "p.Arg903Leu",
"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": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 2974,
"cds_end": null,
"cds_length": 3780,
"cds_start": 2704,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971128.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2704_2706delCGGinsTTA",
"hgvs_p": "p.Arg902Leu",
"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": "L",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2942,
"cds_end": null,
"cds_length": 3777,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971133.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2701_2703delCGGinsTTA",
"hgvs_p": "p.Arg901Leu",
"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",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "R",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 2787,
"cds_end": null,
"cds_length": 3771,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409868.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2695_2697delCGGinsTTA",
"hgvs_p": "p.Arg899Leu",
"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": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 2770,
"cds_end": null,
"cds_length": 3768,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378992.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2677_2679delCGGinsTTA",
"hgvs_p": "p.Arg893Leu",
"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": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 2962,
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