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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: 4-153334847-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153334847&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153334847,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000338700.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2197A>G",
"hgvs_p": "p.Ile733Val",
"transcript": "NM_015271.5",
"protein_id": "NP_056086.2",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 771,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": "ENST00000338700.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2197A>G",
"hgvs_p": "p.Ile733Val",
"transcript": "ENST00000338700.10",
"protein_id": "ENSP00000339659.5",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 771,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": "NM_015271.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2116A>G",
"hgvs_p": "p.Ile706Val",
"transcript": "ENST00000437508.7",
"protein_id": "ENSP00000415812.2",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 744,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2082+6177A>G",
"hgvs_p": null,
"transcript": "ENST00000675838.1",
"protein_id": "ENSP00000501593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2290A>G",
"hgvs_p": "p.Ile764Val",
"transcript": "NM_001375488.1",
"protein_id": "NP_001362417.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 802,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2287A>G",
"hgvs_p": "p.Ile763Val",
"transcript": "NM_001375489.1",
"protein_id": "NP_001362418.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 801,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 6845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2275A>G",
"hgvs_p": "p.Ile759Val",
"transcript": "ENST00000674847.1",
"protein_id": "ENSP00000501983.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 797,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 6967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2209A>G",
"hgvs_p": "p.Ile737Val",
"transcript": "NM_001438618.1",
"protein_id": "NP_001425547.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 775,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2209A>G",
"hgvs_p": "p.Ile737Val",
"transcript": "ENST00000675063.1",
"protein_id": "ENSP00000501562.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 775,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2372,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2209A>G",
"hgvs_p": "p.Ile737Val",
"transcript": "ENST00000675673.1",
"protein_id": "ENSP00000502083.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 775,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2206A>G",
"hgvs_p": "p.Ile736Val",
"transcript": "NM_001438619.1",
"protein_id": "NP_001425548.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 774,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Ile732Val",
"transcript": "NM_001438620.1",
"protein_id": "NP_001425549.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 770,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2182A>G",
"hgvs_p": "p.Ile728Val",
"transcript": "NM_001351054.2",
"protein_id": "NP_001337983.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 766,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 6878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2182A>G",
"hgvs_p": "p.Ile728Val",
"transcript": "ENST00000674935.1",
"protein_id": "ENSP00000501672.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 766,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2179A>G",
"hgvs_p": "p.Ile727Val",
"transcript": "NM_001351055.2",
"protein_id": "NP_001337984.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 765,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 6875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2179A>G",
"hgvs_p": "p.Ile727Val",
"transcript": "ENST00000674726.1",
"protein_id": "ENSP00000502266.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 765,
"cds_start": 2179,
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"cds_length": 2298,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 6860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2170A>G",
"hgvs_p": "p.Ile724Val",
"transcript": "ENST00000675977.1",
"protein_id": "ENSP00000501671.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 762,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2167A>G",
"hgvs_p": "p.Ile723Val",
"transcript": "ENST00000674896.1",
"protein_id": "ENSP00000501725.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 761,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2140A>G",
"hgvs_p": "p.Ile714Val",
"transcript": "NM_001375490.1",
"protein_id": "NP_001362419.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 752,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 6698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2137A>G",
"hgvs_p": "p.Ile713Val",
"transcript": "NM_001375491.1",
"protein_id": "NP_001362420.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 751,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 6695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2128A>G",
"hgvs_p": "p.Ile710Val",
"transcript": "NM_001351056.2",
"protein_id": "NP_001337985.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 748,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM2",
"gene_hgnc_id": 15974,
"hgvs_c": "c.2128A>G",
"hgvs_p": "p.Ile710Val",
"transcript": "NM_001438621.1",
"protein_id": "NP_001425550.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 748,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 7197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "Charcot-Marie-Tooth disease type 2R|not provided|not specified",
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}