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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: 2-74361577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74361577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74361577,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004082.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3759G>A",
"hgvs_p": "p.Ala1253Ala",
"transcript": "NM_004082.5",
"protein_id": "NP_004073.2",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3759,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000628224.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004082.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3759G>A",
"hgvs_p": "p.Ala1253Ala",
"transcript": "ENST00000628224.3",
"protein_id": "ENSP00000487279.2",
"transcript_support_level": 5,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3759,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004082.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628224.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3744G>A",
"hgvs_p": "p.Ala1248Ala",
"transcript": "ENST00000361874.8",
"protein_id": "ENSP00000354791.4",
"transcript_support_level": 1,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3744,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361874.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3684G>A",
"hgvs_p": "p.Ala1228Ala",
"transcript": "ENST00000409567.7",
"protein_id": "ENSP00000386843.3",
"transcript_support_level": 1,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3684,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409567.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3633G>A",
"hgvs_p": "p.Ala1211Ala",
"transcript": "ENST00000409240.5",
"protein_id": "ENSP00000386406.1",
"transcript_support_level": 1,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3633,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409240.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3342G>A",
"hgvs_p": "p.Ala1114Ala",
"transcript": "ENST00000409438.5",
"protein_id": "ENSP00000387270.1",
"transcript_support_level": 1,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409438.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264324",
"gene_hgnc_id": null,
"hgvs_c": "n.498G>A",
"hgvs_p": null,
"transcript": "ENST00000451608.2",
"protein_id": "ENSP00000416453.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451608.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.2022G>A",
"hgvs_p": null,
"transcript": "ENST00000491465.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491465.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3738G>A",
"hgvs_p": "p.Ala1246Ala",
"transcript": "NM_001190837.2",
"protein_id": "NP_001177766.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3738,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190837.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3738G>A",
"hgvs_p": "p.Ala1246Ala",
"transcript": "ENST00000394003.7",
"protein_id": "ENSP00000377571.3",
"transcript_support_level": 5,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3738,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394003.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3723G>A",
"hgvs_p": "p.Ala1241Ala",
"transcript": "ENST00000898642.1",
"protein_id": "ENSP00000568701.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3723,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898642.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3723G>A",
"hgvs_p": "p.Ala1241Ala",
"transcript": "ENST00000971125.1",
"protein_id": "ENSP00000641184.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3723,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971125.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3720G>A",
"hgvs_p": "p.Ala1240Ala",
"transcript": "ENST00000971127.1",
"protein_id": "ENSP00000641186.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3720,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971127.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3720G>A",
"hgvs_p": "p.Ala1240Ala",
"transcript": "ENST00000971130.1",
"protein_id": "ENSP00000641189.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3720,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971130.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3720G>A",
"hgvs_p": "p.Ala1240Ala",
"transcript": "ENST00000971131.1",
"protein_id": "ENSP00000641190.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3720,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971131.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3708G>A",
"hgvs_p": "p.Ala1236Ala",
"transcript": "NM_001378991.1",
"protein_id": "NP_001365920.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3708,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378991.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3708G>A",
"hgvs_p": "p.Ala1236Ala",
"transcript": "ENST00000680606.1",
"protein_id": "ENSP00000505612.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3708,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680606.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3705G>A",
"hgvs_p": "p.Ala1235Ala",
"transcript": "ENST00000898641.1",
"protein_id": "ENSP00000568700.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3705,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898641.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3702G>A",
"hgvs_p": "p.Ala1234Ala",
"transcript": "ENST00000971128.1",
"protein_id": "ENSP00000641187.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3702,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971128.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3699G>A",
"hgvs_p": "p.Ala1233Ala",
"transcript": "ENST00000971133.1",
"protein_id": "ENSP00000641192.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3699,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971133.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3693G>A",
"hgvs_p": "p.Ala1231Ala",
"transcript": "ENST00000409868.5",
"protein_id": "ENSP00000387327.1",
"transcript_support_level": 5,
"aa_start": 1231,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3693,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409868.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.3690G>A",
"hgvs_p": "p.Ala1230Ala",
"transcript": "NM_001378992.1",
"protein_id": "NP_001365921.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3690,
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"bayesdelnoaf_score": -0.53,
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{
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"criteria": [
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"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004082.5",
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{
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"BP6"
],
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],
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}
],
"clinvar_disease": " distal hereditary motor, type 7B,Amyotrophic lateral sclerosis type 1,Inborn genetic diseases,Neuronopathy,Perry syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "Perry syndrome|Neuronopathy, distal hereditary motor, type 7B|Inborn genetic diseases|Amyotrophic lateral sclerosis type 1;Neuronopathy, distal hereditary motor, type 7B;Perry syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}