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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: 19-20948858-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=20948858&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 20948858,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003429.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Lys",
"transcript": "NM_003429.5",
"protein_id": "NP_003420.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 595,
"cds_start": 344,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": "ENST00000328178.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Lys",
"transcript": "ENST00000328178.13",
"protein_id": "ENSP00000329793.7",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 595,
"cds_start": 344,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": "NM_003429.5",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.322G>A",
"hgvs_p": null,
"transcript": "ENST00000596534.5",
"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": 1661,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.813G>A",
"hgvs_p": null,
"transcript": "ENST00000601023.2",
"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": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Lys",
"transcript": "NM_001256171.2",
"protein_id": "NP_001243100.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 625,
"cds_start": 434,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Lys",
"transcript": "ENST00000345030.6",
"protein_id": "ENSP00000342340.5",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 562,
"cds_start": 245,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Lys",
"transcript": "NM_001256173.2",
"protein_id": "NP_001243102.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 531,
"cds_start": 152,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Lys",
"transcript": "ENST00000599885.1",
"protein_id": "ENSP00000470667.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 128,
"cds_start": 152,
"cds_end": null,
"cds_length": 387,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Lys",
"transcript": "ENST00000601924.5",
"protein_id": "ENSP00000471286.1",
"transcript_support_level": 4,
"aa_start": 108,
"aa_end": null,
"aa_length": 118,
"cds_start": 323,
"cds_end": null,
"cds_length": 358,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160Lys",
"transcript": "XM_011528263.3",
"protein_id": "XP_011526565.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 640,
"cds_start": 479,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128Lys",
"transcript": "XM_047439353.1",
"protein_id": "XP_047295309.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 608,
"cds_start": 383,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.188G>A",
"hgvs_p": "p.Arg63Lys",
"transcript": "XM_047439354.1",
"protein_id": "XP_047295310.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 543,
"cds_start": 188,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Lys",
"transcript": "XM_011528264.1",
"protein_id": "XP_011526566.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 536,
"cds_start": 167,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Lys",
"transcript": "XM_047439355.1",
"protein_id": "XP_047295311.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 518,
"cds_start": 113,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Lys",
"transcript": "XM_047439356.1",
"protein_id": "XP_047295312.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 518,
"cds_start": 113,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Lys",
"transcript": "XM_047439357.1",
"protein_id": "XP_047295313.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 518,
"cds_start": 113,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Lys",
"transcript": "XM_047439358.1",
"protein_id": "XP_047295314.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 518,
"cds_start": 113,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Lys",
"transcript": "XM_047439359.1",
"protein_id": "XP_047295315.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 518,
"cds_start": 113,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 2043,
"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,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.267G>A",
"hgvs_p": null,
"transcript": "ENST00000595742.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 773,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.263G>A",
"hgvs_p": null,
"transcript": "ENST00000598862.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 574,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.191G>A",
"hgvs_p": null,
"transcript": "ENST00000599064.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.*138G>A",
"hgvs_p": null,
"transcript": "ENST00000597314.5",
"protein_id": "ENSP00000471467.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298806",
"gene_hgnc_id": null,
"hgvs_c": "n.278+22520C>T",
"hgvs_p": null,
"transcript": "ENST00000758057.1",
"protein_id": null,
"transcript_support_level": null,
"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": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.*67G>A",
"hgvs_p": null,
"transcript": "ENST00000601284.5",
"protein_id": "ENSP00000470347.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"dbsnp": null,
"frequency_reference_population": null,
"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": 0.045238107442855835,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.075,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.083,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003429.5",
"gene_symbol": "ZNF85",
"hgnc_id": 13160,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000758057.1",
"gene_symbol": "ENSG00000298806",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.278+22520C>T",
"hgvs_p": null
}
],
"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
}