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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: 19-50417880-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50417880&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50417880,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000440232.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "NM_002691.4",
"protein_id": "NP_002682.2",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000440232.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "ENST00000440232.7",
"protein_id": "ENSP00000406046.1",
"transcript_support_level": 1,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_002691.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3335G>A",
"hgvs_p": "p.Arg1112Gln",
"transcript": "ENST00000595904.6",
"protein_id": "ENSP00000472445.1",
"transcript_support_level": 1,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3335,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "ENST00000599857.7",
"protein_id": "ENSP00000473052.1",
"transcript_support_level": 1,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 3467,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000142539",
"gene_hgnc_id": null,
"hgvs_c": "c.425+611G>A",
"hgvs_p": null,
"transcript": "ENST00000599632.1",
"protein_id": "ENSP00000473233.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3335G>A",
"hgvs_p": "p.Arg1112Gln",
"transcript": "NM_001308632.1",
"protein_id": "NP_001295561.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3335,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3263G>A",
"hgvs_p": "p.Arg1088Gln",
"transcript": "ENST00000644560.2",
"protein_id": "ENSP00000495618.2",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3263,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "NM_001256849.1",
"protein_id": "NP_001243778.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "NM_001438212.1",
"protein_id": "NP_001425141.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "NM_001438213.1",
"protein_id": "NP_001425142.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "ENST00000593887.2",
"protein_id": "ENSP00000472607.2",
"transcript_support_level": 5,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3636,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "ENST00000601098.6",
"protein_id": "ENSP00000472600.2",
"transcript_support_level": 3,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3433,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "ENST00000687454.1",
"protein_id": "ENSP00000510052.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062Gln",
"transcript": "NM_001438210.1",
"protein_id": "NP_001425139.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3233,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062Gln",
"transcript": "NM_001438211.1",
"protein_id": "NP_001425140.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062Gln",
"transcript": "ENST00000613923.6",
"protein_id": "ENSP00000481858.2",
"transcript_support_level": 5,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3185,
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"cdna_start": 3246,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "XM_011527038.2",
"protein_id": "XP_011525340.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln",
"transcript": "XM_047438947.1",
"protein_id": "XP_047294903.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3257,
"cds_end": null,
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"cdna_start": 4249,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062Gln",
"transcript": "XM_047438948.1",
"protein_id": "XP_047294904.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
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"cds_start": 3185,
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"cdna_start": 3399,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062Gln",
"transcript": "XM_047438949.1",
"protein_id": "XP_047294905.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3185,
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"cdna_start": 4177,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062Gln",
"transcript": "XM_047438950.1",
"protein_id": "XP_047294906.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3312,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.828G>A",
"hgvs_p": "p.Ala276Ala",
"transcript": "ENST00000593981.1",
"protein_id": "ENSP00000469308.1",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 289,
"cds_start": 828,
"cds_end": null,
"cds_length": 871,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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{
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{
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{
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}
],
"gene_symbol": "POLD1",
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"dbsnp": "rs3219457",
"frequency_reference_population": 0.000064556734,
"hom_count_reference_population": 1,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000459271,
"gnomad_genomes_af": 0.000243178,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014512479305267334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.0615,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.45,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000440232.7",
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3257G>A",
"hgvs_p": "p.Arg1086Gln"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000599632.1",
"gene_symbol": "ENSG00000142539",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.425+611G>A",
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}
],
"clinvar_disease": " 10, susceptibility to,Colorectal cancer,Familial colorectal cancer type X,Hereditary cancer-predisposing syndrome,Polymerase proofreading-related adenomatous polyposis,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:2 B:1",
"phenotype_combined": "not provided|Colorectal cancer, susceptibility to, 10|not specified|Hereditary cancer-predisposing syndrome|Familial colorectal cancer type X;Polymerase proofreading-related adenomatous polyposis",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}