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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: 1-156130617-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156130617&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156130617,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001406985.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "NM_170707.4",
"protein_id": "NP_733821.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "ENST00000368300.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170707.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000368300.9",
"protein_id": "ENSP00000357283.4",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "NM_170707.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368300.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "NM_005572.4",
"protein_id": "NP_005563.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 572,
"cds_start": 357,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": "ENST00000677389.1",
"biotype": "protein_coding",
"feature": "NM_005572.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000677389.1",
"protein_id": "ENSP00000503633.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 572,
"cds_start": 357,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": "NM_005572.4",
"biotype": "protein_coding",
"feature": "ENST00000677389.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000368299.7",
"protein_id": "ENSP00000357282.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 614,
"cds_start": 357,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368299.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-202C>T",
"hgvs_p": null,
"transcript": "NM_001406993.1",
"protein_id": "NP_001393922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-308C>T",
"hgvs_p": null,
"transcript": "NM_001406994.1",
"protein_id": "NP_001393923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-202C>T",
"hgvs_p": null,
"transcript": "NM_001406996.1",
"protein_id": "NP_001393925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406996.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-202C>T",
"hgvs_p": null,
"transcript": "NM_001406997.1",
"protein_id": "NP_001393926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-202C>T",
"hgvs_p": null,
"transcript": "ENST00000504687.7",
"protein_id": "ENSP00000426535.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504687.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-308C>T",
"hgvs_p": null,
"transcript": "NM_001406999.1",
"protein_id": "NP_001393928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-308C>T",
"hgvs_p": null,
"transcript": "NM_001407000.1",
"protein_id": "NP_001393929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407000.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.-202C>T",
"hgvs_p": null,
"transcript": "NM_001407003.1",
"protein_id": "NP_001393932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": null,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407003.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000675667.1",
"protein_id": "ENSP00000501803.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 729,
"cds_start": 357,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675667.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "NM_001406985.1",
"protein_id": "NP_001393914.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 686,
"cds_start": 357,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406985.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "NM_001406983.1",
"protein_id": "NP_001393912.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406983.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "NM_001406991.1",
"protein_id": "NP_001393920.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406991.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000361308.9",
"protein_id": "ENSP00000355292.6",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361308.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000675939.1",
"protein_id": "ENSP00000502256.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675939.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000683032.1",
"protein_id": "ENSP00000506771.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683032.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000899553.1",
"protein_id": "ENSP00000569612.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
"cds_start": 357,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899553.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Arg119Arg",
"transcript": "ENST00000927999.1",
"protein_id": "ENSP00000598058.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 664,
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"pathogenic_score": 0,
"criteria": [
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"verdict": "Benign",
"transcript": "NM_001406985.1",
"gene_symbol": "LMNA",
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"effects": [
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"inheritance_mode": "AD,AR,SD",
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"hgvs_p": "p.Arg119Arg"
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],
"clinvar_disease": " Dunnigan type, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, autosomal dominant,Cardiomyopathy,Cardiovascular phenotype,Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2,Charcot-Marie-Tooth disease type 2B1,Congenital muscular dystrophy due to LMNA mutation,Dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy,Emery-Dreifuss muscular dystrophy 2,Familial partial lipodystrophy,Hutchinson-Gilford syndrome,LMNA-related disorder,Lethal tight skin contracture syndrome,Lipoatrophy with Diabetes,Mandibuloacral dysplasia with type A lipodystrophy,Primary dilated cardiomyopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:7 B:18 O:1",
"phenotype_combined": "not specified|not provided|Cardiovascular phenotype|Primary dilated cardiomyopathy|Emery-Dreifuss muscular dystrophy|Cardiomyopathy|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Familial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease type 2|Lethal tight skin contracture syndrome|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Hutchinson-Gilford syndrome|Mandibuloacral dysplasia with type A lipodystrophy|Dilated cardiomyopathy 1A|Congenital muscular dystrophy due to LMNA mutation|Charcot-Marie-Tooth disease|LMNA-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}