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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: 11-47415321-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47415321&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47415321,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001128225.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Ala358Ala",
"transcript": "NM_001128225.3",
"protein_id": "NP_001121697.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 371,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000362021.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128225.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Ala358Ala",
"transcript": "ENST00000362021.9",
"protein_id": "ENSP00000354689.4",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 371,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128225.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362021.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000354884.8",
"protein_id": "ENSP00000346956.4",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354884.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1323G>A",
"hgvs_p": "p.Ala441Ala",
"transcript": "ENST00000968896.1",
"protein_id": "ENSP00000638955.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 454,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968896.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1116G>A",
"hgvs_p": "p.Ala372Ala",
"transcript": "ENST00000869742.1",
"protein_id": "ENSP00000539801.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 385,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869742.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1116G>A",
"hgvs_p": "p.Ala372Ala",
"transcript": "ENST00000968897.1",
"protein_id": "ENSP00000638956.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 385,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968897.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Ala371Ala",
"transcript": "ENST00000968898.1",
"protein_id": "ENSP00000638957.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 384,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968898.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Ala358Ala",
"transcript": "ENST00000968900.1",
"protein_id": "ENSP00000638959.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 371,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968900.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "NM_001441271.1",
"protein_id": "NP_001428200.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441271.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "NM_152264.5",
"protein_id": "NP_689477.3",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152264.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000869741.1",
"protein_id": "ENSP00000539800.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869741.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000869743.1",
"protein_id": "ENSP00000539802.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869743.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000869744.1",
"protein_id": "ENSP00000539803.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869744.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000869745.1",
"protein_id": "ENSP00000539804.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869745.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000869746.1",
"protein_id": "ENSP00000539805.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869746.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000869747.1",
"protein_id": "ENSP00000539806.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869747.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000911862.1",
"protein_id": "ENSP00000581921.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911862.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000911864.1",
"protein_id": "ENSP00000581923.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911864.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000911865.1",
"protein_id": "ENSP00000581924.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911865.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000911866.1",
"protein_id": "ENSP00000581925.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911866.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1053G>A",
"hgvs_p": "p.Ala351Ala",
"transcript": "ENST00000968895.1",
"protein_id": "ENSP00000638954.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 364,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968895.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Ala350Ala",
"transcript": "ENST00000968891.1",
"protein_id": "ENSP00000638950.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 363,
"cds_start": 1050,
"cds_end": null,
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{
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{
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "SLC39A13",
"gene_hgnc_id": 20859,
"dbsnp": "rs576702857",
"frequency_reference_population": 0.00029491214,
"hom_count_reference_population": 3,
"allele_count_reference_population": 476,
"gnomad_exomes_af": 0.000311947,
"gnomad_genomes_af": 0.000131359,
"gnomad_exomes_ac": 456,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.8100000023841858,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.038,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.81,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "PP3_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001128225.3",
"gene_symbol": "SLC39A13",
"hgnc_id": 20859,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1074G>A",
"hgvs_p": "p.Ala358Ala"
}
],
"clinvar_disease": " spondylocheirodysplastic type,Connective tissue disorder,Ehlers-Danlos syndrome,SLC39A13-related disorder",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Ehlers-Danlos syndrome, spondylocheirodysplastic type|Connective tissue disorder|SLC39A13-related disorder|Ehlers-Danlos syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}