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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: 2-32184322-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32184322&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32184322,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001193513.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "NM_017964.5",
"protein_id": "NP_060434.2",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 461,
"cds_start": 268,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282587.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017964.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "ENST00000282587.9",
"protein_id": "ENSP00000282587.5",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 461,
"cds_start": 268,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017964.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282587.9"
},
{
"aa_ref": "P",
"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": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "ENST00000379343.6",
"protein_id": "ENSP00000368648.2",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 501,
"cds_start": 388,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379343.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "ENST00000435660.5",
"protein_id": "ENSP00000399005.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 438,
"cds_start": 268,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435660.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "ENST00000406369.2",
"protein_id": "ENSP00000384041.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 387,
"cds_start": 46,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406369.2"
},
{
"aa_ref": "P",
"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": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "NM_001193513.3",
"protein_id": "NP_001180442.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 501,
"cds_start": 388,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193513.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Pro115Ser",
"transcript": "ENST00000954367.1",
"protein_id": "ENSP00000624426.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 447,
"cds_start": 343,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954367.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "ENST00000866170.1",
"protein_id": "ENSP00000536229.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 445,
"cds_start": 268,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866170.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "NM_001193514.3",
"protein_id": "NP_001180443.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 438,
"cds_start": 268,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193514.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "NM_001193515.3",
"protein_id": "NP_001180444.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 432,
"cds_start": 181,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193515.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000357055.7",
"protein_id": "ENSP00000349563.4",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 432,
"cds_start": 181,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357055.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "ENST00000911306.1",
"protein_id": "ENSP00000581365.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 422,
"cds_start": 268,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911306.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Pro41Ser",
"transcript": "NM_001330479.2",
"protein_id": "NP_001317408.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 412,
"cds_start": 121,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330479.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "NM_001330476.2",
"protein_id": "NP_001317405.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 387,
"cds_start": 46,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330476.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "ENST00000911308.1",
"protein_id": "ENSP00000581367.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 268,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911308.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000440718.5",
"protein_id": "ENSP00000393946.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 177,
"cds_start": 181,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440718.5"
},
{
"aa_ref": "P",
"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": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "XM_011532959.4",
"protein_id": "XP_011531261.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 478,
"cds_start": 388,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532959.4"
},
{
"aa_ref": "P",
"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": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Pro81Ser",
"transcript": "XM_047444944.1",
"protein_id": "XP_047300900.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 452,
"cds_start": 241,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444944.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "XM_011532962.4",
"protein_id": "XP_011531264.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 387,
"cds_start": 46,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532962.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "XM_047444945.1",
"protein_id": "XP_047300901.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 387,
"cds_start": 46,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444945.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "XM_011532963.4",
"protein_id": "XP_011531265.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 362,
"cds_start": 388,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532963.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Pro90Ser",
"transcript": "XM_047444946.1",
"protein_id": "XP_047300902.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 322,
"cds_start": 268,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444946.1"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 0,
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}