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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: 19-18145090-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18145090&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18145090,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001393501.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967Gln",
"transcript": "NM_001393504.1",
"protein_id": "NP_001380433.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2900,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000687212.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393504.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967Gln",
"transcript": "ENST00000687212.1",
"protein_id": "ENSP00000509890.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2900,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393504.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687212.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938Gln",
"transcript": "ENST00000262811.10",
"protein_id": "ENSP00000262811.4",
"transcript_support_level": 1,
"aa_start": 938,
"aa_end": null,
"aa_length": 1309,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262811.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2924G>A",
"hgvs_p": "p.Arg975Gln",
"transcript": "NM_001393501.1",
"protein_id": "NP_001380430.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1355,
"cds_start": 2924,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393501.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2903G>A",
"hgvs_p": "p.Arg968Gln",
"transcript": "NM_001393502.1",
"protein_id": "NP_001380431.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1348,
"cds_start": 2903,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393502.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967Gln",
"transcript": "NM_001393503.1",
"protein_id": "NP_001380432.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2900,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393503.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2897G>A",
"hgvs_p": "p.Arg966Gln",
"transcript": "NM_001393505.1",
"protein_id": "NP_001380434.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2897,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393505.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001393506.1",
"protein_id": "NP_001380435.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393506.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2879G>A",
"hgvs_p": "p.Arg960Gln",
"transcript": "NM_001393507.1",
"protein_id": "NP_001380436.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393507.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2879G>A",
"hgvs_p": "p.Arg960Gln",
"transcript": "ENST00000697701.1",
"protein_id": "ENSP00000513408.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697701.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2837G>A",
"hgvs_p": "p.Arg946Gln",
"transcript": "ENST00000893417.1",
"protein_id": "ENSP00000563476.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1326,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893417.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Arg945Gln",
"transcript": "NM_001393508.1",
"protein_id": "NP_001380437.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1325,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393508.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944Gln",
"transcript": "NM_001393509.1",
"protein_id": "NP_001380438.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393509.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944Gln",
"transcript": "NM_001393510.1",
"protein_id": "NP_001380439.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1324,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393510.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943Gln",
"transcript": "NM_001393511.1",
"protein_id": "NP_001380440.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393511.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944Gln",
"transcript": "NM_001393512.1",
"protein_id": "NP_001380441.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393512.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951Gln",
"transcript": "NM_001393513.1",
"protein_id": "NP_001380442.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2852,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393513.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938Gln",
"transcript": "NM_001393514.1",
"protein_id": "NP_001380443.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1318,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393514.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938Gln",
"transcript": "ENST00000893415.1",
"protein_id": "ENSP00000563474.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1318,
"cds_start": 2813,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893415.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2810G>A",
"hgvs_p": "p.Arg937Gln",
"transcript": "NM_001393515.1",
"protein_id": "NP_001380444.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1317,
"cds_start": 2810,
"cds_end": null,
"cds_length": 3954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393515.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Arg945Gln",
"transcript": "NM_001393516.1",
"protein_id": "NP_001380445.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1316,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393516.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944Gln",
"transcript": "NM_001393517.1",
"protein_id": "NP_001380446.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1315,
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"revel_prediction": "Uncertain_significance",
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{
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"verdict": "Likely_benign",
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{
"score": 2,
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}