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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: 19-18123631-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18123631&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18123631,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000687212.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.609C>G",
"hgvs_p": "p.His203Gln",
"transcript": "NM_001393504.1",
"protein_id": "NP_001380433.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1347,
"cds_start": 609,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "ENST00000687212.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.609C>G",
"hgvs_p": "p.His203Gln",
"transcript": "ENST00000687212.1",
"protein_id": "ENSP00000509890.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1347,
"cds_start": 609,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "NM_001393504.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.522C>G",
"hgvs_p": "p.His174Gln",
"transcript": "ENST00000262811.10",
"protein_id": "ENSP00000262811.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 1309,
"cds_start": 522,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.633C>G",
"hgvs_p": "p.His211Gln",
"transcript": "NM_001393501.1",
"protein_id": "NP_001380430.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1355,
"cds_start": 633,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.612C>G",
"hgvs_p": "p.His204Gln",
"transcript": "NM_001393502.1",
"protein_id": "NP_001380431.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 1348,
"cds_start": 612,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.609C>G",
"hgvs_p": "p.His203Gln",
"transcript": "NM_001393503.1",
"protein_id": "NP_001380432.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1347,
"cds_start": 609,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 6149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.His202Gln",
"transcript": "NM_001393505.1",
"protein_id": "NP_001380434.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 1337,
"cds_start": 606,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 6119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.561C>G",
"hgvs_p": "p.His187Gln",
"transcript": "NM_001393506.1",
"protein_id": "NP_001380435.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1331,
"cds_start": 561,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.His196Gln",
"transcript": "NM_001393507.1",
"protein_id": "NP_001380436.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 1331,
"cds_start": 588,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 6101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.His196Gln",
"transcript": "ENST00000697701.1",
"protein_id": "ENSP00000513408.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 1331,
"cds_start": 588,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.543C>G",
"hgvs_p": "p.His181Gln",
"transcript": "NM_001393508.1",
"protein_id": "NP_001380437.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1325,
"cds_start": 543,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 5954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.540C>G",
"hgvs_p": "p.His180Gln",
"transcript": "NM_001393509.1",
"protein_id": "NP_001380438.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1324,
"cds_start": 540,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 5951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.540C>G",
"hgvs_p": "p.His180Gln",
"transcript": "NM_001393510.1",
"protein_id": "NP_001380439.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1324,
"cds_start": 540,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 6115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.His179Gln",
"transcript": "NM_001393511.1",
"protein_id": "NP_001380440.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1323,
"cds_start": 537,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.540C>G",
"hgvs_p": "p.His180Gln",
"transcript": "NM_001393512.1",
"protein_id": "NP_001380441.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1323,
"cds_start": 540,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.561C>G",
"hgvs_p": "p.His187Gln",
"transcript": "NM_001393513.1",
"protein_id": "NP_001380442.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 1322,
"cds_start": 561,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.522C>G",
"hgvs_p": "p.His174Gln",
"transcript": "NM_001393514.1",
"protein_id": "NP_001380443.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 1318,
"cds_start": 522,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.519C>G",
"hgvs_p": "p.His173Gln",
"transcript": "NM_001393515.1",
"protein_id": "NP_001380444.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 1317,
"cds_start": 519,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.543C>G",
"hgvs_p": "p.His181Gln",
"transcript": "NM_001393516.1",
"protein_id": "NP_001380445.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1316,
"cds_start": 543,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 558,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.540C>G",
"hgvs_p": "p.His180Gln",
"transcript": "NM_001393517.1",
"protein_id": "NP_001380446.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1315,
"cds_start": 540,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 719,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.540C>G",
"hgvs_p": "p.His180Gln",
"transcript": "NM_001393518.1",
"protein_id": "NP_001380447.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1315,
"cds_start": 540,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.540C>G",
"hgvs_p": "p.His180Gln",
"transcript": "ENST00000697702.1",
"protein_id": "ENSP00000513409.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1315,
"cds_start": 540,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.537C>G",
"hgvs_p": "p.His179Gln",
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},
{
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},
{
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},
{
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"strand": true,
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],
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"cds_start": -4,
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}
],
"gene_symbol": "MAST3",
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"dbsnp": "rs740691",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5162955522537231,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8138,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.032,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000687212.1",
"gene_symbol": "MAST3",
"hgnc_id": 19036,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.609C>G",
"hgvs_p": "p.His203Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}