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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: 19-56782026-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56782026&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 56782026,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000629319.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.Ser222Ser",
"transcript": "NM_001387356.1",
"protein_id": "NP_001374285.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 558,
"cds_start": 666,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": "ENST00000629319.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.Ser222Ser",
"transcript": "ENST00000629319.3",
"protein_id": "ENSP00000486502.2",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 558,
"cds_start": 666,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": "NM_001387356.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "ENST00000593711.6",
"protein_id": "ENSP00000472306.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "ENST00000601070.5",
"protein_id": "ENSP00000470326.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "n.*156T>C",
"hgvs_p": null,
"transcript": "ENST00000595671.5",
"protein_id": "ENSP00000469185.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "n.*156T>C",
"hgvs_p": null,
"transcript": "ENST00000597281.5",
"protein_id": "ENSP00000471643.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "n.*156T>C",
"hgvs_p": null,
"transcript": "ENST00000595671.5",
"protein_id": "ENSP00000469185.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "n.*156T>C",
"hgvs_p": null,
"transcript": "ENST00000597281.5",
"protein_id": "ENSP00000471643.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286125",
"gene_hgnc_id": null,
"hgvs_c": "n.44-7902A>G",
"hgvs_p": null,
"transcript": "ENST00000595954.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.Ser222Ser",
"transcript": "NM_001369773.1",
"protein_id": "NP_001356702.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 558,
"cds_start": 666,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.Ser222Ser",
"transcript": "NM_001369774.1",
"protein_id": "NP_001356703.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 558,
"cds_start": 666,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.Ser222Ser",
"transcript": "ENST00000689654.1",
"protein_id": "ENSP00000510784.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 558,
"cds_start": 666,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_001146326.2",
"protein_id": "NP_001139798.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_001146327.2",
"protein_id": "NP_001139799.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_001369770.1",
"protein_id": "NP_001356699.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_001369771.1",
"protein_id": "NP_001356700.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_001369772.1",
"protein_id": "NP_001356701.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_001387357.1",
"protein_id": "NP_001374286.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_001387358.1",
"protein_id": "NP_001374287.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "NM_015363.5",
"protein_id": "NP_056178.3",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.573T>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "ENST00000599935.5",
"protein_id": "ENSP00000468984.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 527,
"cds_start": 573,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ser43Ser",
"transcript": "ENST00000715564.1",
"protein_id": "ENSP00000520476.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 379,
"cds_start": 129,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIM2",
"gene_hgnc_id": 12875,
"hgvs_c": "n.241T>C",
"hgvs_p": null,
"transcript": "ENST00000596270.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000629319.3",
"gene_symbol": "ZIM2",
"hgnc_id": 12875,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.666T>C",
"hgvs_p": "p.Ser222Ser"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000595954.2",
"gene_symbol": "ENSG00000286125",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.44-7902A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_110744.1",
"gene_symbol": "ZIM2-AS1",
"hgnc_id": 51304,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.94-7902A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}