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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: 12-32731018-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32731018&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32731018,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000549701.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "NM_001278464.2",
"protein_id": "NP_001265393.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 749,
"cds_start": 1123,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "ENST00000553257.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "ENST00000553257.6",
"protein_id": "ENSP00000449089.1",
"transcript_support_level": 2,
"aa_start": 375,
"aa_end": null,
"aa_length": 749,
"cds_start": 1123,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "NM_001278464.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "NM_012062.5",
"protein_id": "NP_036192.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 736,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": "ENST00000549701.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "ENST00000549701.6",
"protein_id": "ENSP00000450399.1",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 736,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": "NM_012062.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "ENST00000381000.8",
"protein_id": "ENSP00000370388.4",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 738,
"cds_start": 1123,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "ENST00000547312.5",
"protein_id": "ENSP00000448610.1",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 725,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "ENST00000452533.6",
"protein_id": "ENSP00000415131.2",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 710,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "ENST00000266481.10",
"protein_id": "ENSP00000266481.6",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 699,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "NM_001278465.2",
"protein_id": "NP_001265394.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 738,
"cds_start": 1123,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "NM_001278463.2",
"protein_id": "NP_001265392.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 725,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Ser",
"transcript": "ENST00000551476.6",
"protein_id": "ENSP00000447845.2",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 719,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "NM_001330380.2",
"protein_id": "NP_001317309.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 712,
"cds_start": 1123,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Ser",
"transcript": "ENST00000358214.9",
"protein_id": "ENSP00000350948.5",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 712,
"cds_start": 1123,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "NM_012063.4",
"protein_id": "NP_036193.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 710,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "NM_005690.5",
"protein_id": "NP_005681.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 699,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Gly333Ser",
"transcript": "ENST00000548750.6",
"protein_id": "ENSP00000447788.2",
"transcript_support_level": 3,
"aa_start": 333,
"aa_end": null,
"aa_length": 696,
"cds_start": 997,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Ser",
"transcript": "ENST00000703369.1",
"protein_id": "ENSP00000515279.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 602,
"cds_start": 715,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000549926.6",
"protein_id": "ENSP00000515263.1",
"transcript_support_level": 3,
"aa_start": 213,
"aa_end": null,
"aa_length": 587,
"cds_start": 637,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000703338.1",
"protein_id": "ENSP00000515264.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 587,
"cds_start": 637,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Ser",
"transcript": "ENST00000703361.1",
"protein_id": "ENSP00000515273.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 576,
"cds_start": 715,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000703370.1",
"protein_id": "ENSP00000515280.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 576,
"cds_start": 637,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000703371.1",
"protein_id": "ENSP00000515281.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 561,
"cds_start": 637,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
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{
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"gene_symbol": "DNM1L",
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"effects": [
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"inheritance_mode": "AD,AR",
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"hgvs_p": "p.Gly362Ser"
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{
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"clinvar_disease": " due to defective mitochondrial peroxisomal fission 1, lethal,DNM1L-related disorder,Encephalopathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|DNM1L-related disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}