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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: 7-853435-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=853435&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 853435,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001367651.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1080T>C",
"hgvs_p": "p.His360His",
"transcript": "NM_001130965.3",
"protein_id": "NP_001124437.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 785,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "ENST00000401592.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130965.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1080T>C",
"hgvs_p": "p.His360His",
"transcript": "ENST00000401592.6",
"protein_id": "ENSP00000384015.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 785,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "NM_001130965.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401592.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.855T>C",
"hgvs_p": "p.His285His",
"transcript": "ENST00000429178.5",
"protein_id": "ENSP00000409909.1",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 710,
"cds_start": 855,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429178.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1189T>C",
"hgvs_p": null,
"transcript": "ENST00000475971.5",
"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": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475971.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.His490His",
"transcript": "ENST00000963118.1",
"protein_id": "ENSP00000633177.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1470,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963118.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.His491His",
"transcript": "ENST00000963093.1",
"protein_id": "ENSP00000633151.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 993,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963093.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.His490His",
"transcript": "ENST00000963103.1",
"protein_id": "ENSP00000633162.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 992,
"cds_start": 1470,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963103.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.His463His",
"transcript": "ENST00000963140.1",
"protein_id": "ENSP00000633199.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 977,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 4548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963140.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1386T>C",
"hgvs_p": "p.His462His",
"transcript": "ENST00000963135.1",
"protein_id": "ENSP00000633194.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 976,
"cds_start": 1386,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963135.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1362T>C",
"hgvs_p": "p.His454His",
"transcript": "ENST00000963074.1",
"protein_id": "ENSP00000633133.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 968,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963074.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.His453His",
"transcript": "ENST00000963082.1",
"protein_id": "ENSP00000633141.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 967,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963082.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.His463His",
"transcript": "ENST00000963107.1",
"protein_id": "ENSP00000633166.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 965,
"cds_start": 1389,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963107.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1362T>C",
"hgvs_p": "p.His454His",
"transcript": "ENST00000963079.1",
"protein_id": "ENSP00000633138.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 956,
"cds_start": 1362,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963079.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.His453His",
"transcript": "ENST00000881164.1",
"protein_id": "ENSP00000551223.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 955,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881164.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.His491His",
"transcript": "ENST00000881168.1",
"protein_id": "ENSP00000551227.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 945,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881168.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.His453His",
"transcript": "ENST00000963137.1",
"protein_id": "ENSP00000633196.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 936,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963137.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.His491His",
"transcript": "ENST00000963102.1",
"protein_id": "ENSP00000633161.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 934,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963102.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1494T>C",
"hgvs_p": "p.His498His",
"transcript": "NM_001367651.1",
"protein_id": "NP_001354580.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 923,
"cds_start": 1494,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367651.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1359T>C",
"hgvs_p": "p.His453His",
"transcript": "ENST00000963124.1",
"protein_id": "ENSP00000633183.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 923,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963124.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1260T>C",
"hgvs_p": "p.His420His",
"transcript": "ENST00000963113.1",
"protein_id": "ENSP00000633172.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 922,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963113.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1473T>C",
"hgvs_p": "p.His491His",
"transcript": "NM_001367705.1",
"protein_id": "NP_001354634.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 916,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367705.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1470T>C",
"hgvs_p": "p.His490His",
"transcript": "NM_001367678.1",
"protein_id": "NP_001354607.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 915,
"cds_start": 1470,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 1521,
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],
"clinvar_disease": "Emery-Dreifuss muscular dystrophy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}